Proper Use of Iron Supplementation

Iron supplementation is a common treatment for iron deficiency, but adverse events associated with oral iron administration can make compliance difficult. Therefore, persisting with oral iron supplementation despite adverse events is not recommended. Compliance can be verified by checking the color of the stool, which will be black in iron administration. In cases where oral iron is not tolerated or gastrointestinal disorders make it difficult to maintain acceptable iron levels, parenteral (IV) iron is the proper course of therapy. However, it is important to discuss the risks involved, including a small risk of hypersensitivity. IV iron is also indicated for patients who are unable to maintain acceptable iron levels during hemodialysis or who fail to comply with prescriptions for oral iron supplementation. By properly using iron supplementation, patients can effectively treat iron deficiency without experiencing unnecessary adverse events.

Interpretation of Abnormal Blood Results

The blood results show a significantly prolonged activated partial thromboplastin time (APTT), which does not correct by more than 50% when mixed with normal plasma. This suggests the presence of an inhibitor rather than a factor deficiency. Factor VIII deficiency, factor IX deficiency, and von Willebrand disease are ruled out based on the clinical details and history. The two possibilities left are a factor VIII inhibitor or the presence of lupus anticoagulant (LAC). However, the absence of bleeding symptoms and the time-dependent nature of factor inhibitors make LAC the more likely answer.

To confirm the presence of LAC, coagulation tests can be done. These tests involve prolongation of a phospholipid-dependent coagulation test, such as APTT or kaolin clotting time, and demonstrating the inhibitor by failing to correct the coagulation test on 50:50 mixing studies by more than 50%. Phospholipid dependence can also be demonstrated by correcting the coagulation test with phospholipid.

Overall, the blood results suggest the presence of LAC, which can be confirmed through coagulation tests.

The patient’s blood tests revealed a normocytic anaemia with fragmented red cells and thrombocytopaenia, along with renal impairment and normal liver function tests. The initial symptoms were a seizure, fluctuating headache, and two unexplained fevers. These symptoms, along with the presence of schistocytes, suggest mechanical destruction of red cells and the possibility of thrombotic thrombocytopaenic purpura-haemolytic uraemic syndrome spectrum (TTP-HUS).

Immediate treatment for TTP-HUS involves plasma exchange to remove high-molecular weight von-Willebrand factor (vWF) and replace ADAMTS-13 protease, which is often deficient in TTP patients and leads to microvascular thrombi formation. High dose steroids may be used in conjunction with plasma exchange for refractory cases, and rituximab or increased frequency of plasma exchange may be considered for persistent or recurrent TTP-HUS. It is important to note that TTP-HUS is a medical emergency and can result in death if not treated immediately. There is no indication for phenytoin loading after a single seizure without status epilepticus, and meningitis is unlikely given the fluctuating 3-month history without meningism.

Managing Thrombotic Thrombocytopenic Purpura (TTP)

Thrombotic thrombocytopenic purpura (TTP) is a condition where abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels. This leads to a deficiency of protease which breaks down large multimers of von Willebrand’s factor. TTP overlaps with haemolytic uraemic syndrome (HUS).

When managing TTP, it is important to avoid antibiotics as they may worsen the outcome. The treatment of choice is plasma exchange. Steroids and immunosuppressants may also be used. Vincristine is another option for management.

To summarize, TTP is a condition caused by abnormal multimers of von Willebrand’s factor that leads to platelet clumping. Management includes avoiding antibiotics, plasma exchange, and the use of steroids, immunosuppressants, and vincristine.

Multiple Myeloma and Hyperviscosity

The patient is showing symptoms of multiple myeloma, including bone pain, anaemia, impaired renal function, and high calcium levels. It is likely that the patient has had a paraprotein for some time, possibly a monoclonal gammopathy of undetermined significance (MGUS), as it was detected during routine follow-up appointments. The patient now has a very high level of IgA kappa, which is causing hyperviscosity and exacerbating their symptoms. While IgM is the most likely immunoglobulin to cause hyperviscosity, IgA and IgG3 tend to aggregate and are more likely to be associated with this condition.

Treating the anaemia with a transfusion at this stage could worsen the hyperviscosity, so it is not recommended. Additionally, the high calcium levels are not the primary concern at this time, so treating them with IV fluids and furosemide is not a priority. Instead, urgent plasma exchange is necessary to alleviate the symptoms of hyperviscosity. Chemotherapy should then be initiated promptly to control the disease process and prevent symptoms from recurring. If a transfusion is absolutely necessary, an exchange transfusion should be performed.

In summary, patients with myeloma who have high paraprotein levels and symptoms related to hyperviscosity require urgent treatment to manage their condition effectively. Plasma exchange and chemotherapy are the primary treatments, and transfusions should be avoided if possible or performed with caution.

Whole body MRI is recommended as the first-line imaging for suspected multiple myeloma, which is likely given the patient’s symptoms. Further tests should be done to confirm the diagnosis.

Understanding Multiple Myeloma: Features and Investigations

Multiple myeloma is a type of cancer that affects the plasma cells in the bone marrow. It is most commonly found in patients aged 60-70 years. The disease is characterized by a range of symptoms, which can be remembered using the mnemonic CRABBI. These include hypercalcemia, renal damage, anemia, bleeding, bone lesions, and increased susceptibility to infection. Other features of multiple myeloma include amyloidosis, carpal tunnel syndrome, neuropathy, and hyperviscosity.

To diagnose multiple myeloma, a range of investigations are required. Blood tests can reveal anemia, renal failure, and hypercalcemia. Protein electrophoresis can detect raised levels of monoclonal IgA/IgG proteins in the serum, while bone marrow aspiration can confirm the diagnosis if the number of plasma cells is significantly raised. Imaging studies, such as whole-body MRI or X-rays, can be used to detect osteolytic lesions.

The diagnostic criteria for multiple myeloma require one major and one minor criteria or three minor criteria in an individual who has signs or symptoms of the disease. Major criteria include the presence of plasmacytoma, 30% plasma cells in a bone marrow sample, or elevated levels of M protein in the blood or urine. Minor criteria include 10% to 30% plasma cells in a bone marrow sample, minor elevations in the level of M protein in the blood or urine, osteolytic lesions, or low levels of antibodies in the blood. Understanding the features and investigations of multiple myeloma is crucial for early detection and effective treatment.

Patients with cancer and VTE should receive a DOAC for a duration of 6 months.

Deep vein thrombosis (DVT) is a serious condition that requires prompt diagnosis and management. The National Institute for Health and Care Excellence (NICE) updated their guidelines in 2020, recommending the use of direct oral anticoagulants (DOACs) as first-line treatment for most people with VTE, including as interim anticoagulants before a definite diagnosis is made. They also recommend the use of DOACs in patients with active cancer, as opposed to low-molecular weight heparin as was previously recommended. Routine cancer screening is no longer recommended following a VTE diagnosis.

If a patient is suspected of having a DVT, a two-level DVT Wells score should be performed to assess the likelihood of the condition. If a DVT is ‘likely’ (2 points or more), a proximal leg vein ultrasound scan should be carried out within 4 hours. If the result is positive, then a diagnosis of DVT is made and anticoagulant treatment should start. If the result is negative, a D-dimer test should be arranged. If a proximal leg vein ultrasound scan cannot be carried out within 4 hours, a D-dimer test should be performed and interim therapeutic anticoagulation administered whilst waiting for the proximal leg vein ultrasound scan (which should be performed within 24 hours).

The cornerstone of VTE management is anticoagulant therapy. The big change in the 2020 guidelines was the increased use of DOACs. Apixaban or rivaroxaban (both DOACs) should be offered first-line following the diagnosis of a DVT. Instead of using low-molecular weight heparin (LMWH) until the diagnosis is confirmed, NICE now advocate using a DOAC once a diagnosis is suspected, with this continued if the diagnosis is confirmed. If neither apixaban nor rivaroxaban are suitable, then either LMWH followed by dabigatran or edoxaban OR LMWH followed by a vitamin K antagonist (VKA, i.e. warfarin) can be used.

All patients should have anticoagulation for at least 3 months. Continuing anticoagulation after this period is partly determined by whether the VTE was provoked or unprovoked. If the VTE was provoked, the treatment is typically stopped after the initial 3 months (3 to 6 months for people with active cancer). If the VTE was

Prognostic Factors in Acute Myeloid Leukaemia

Acute myeloid leukaemia (AML) is a type of blood cancer that can be influenced by various prognostic factors. One of the unfavourable abnormalities associated with AML is the deletion of part of chromosome 5 (5q–), along with other complex translocations and additions. However, favourable karyotype abnormalities such as translocation t(8;21) can also occur. Age is another factor that affects prognosis, with survival rates decreasing significantly after age 40. Thrombocytopenia, or low platelet count, is common in AML but does not significantly impact prognosis compared to other factors such as renal impairment, performance status, prior haematological malignancy, and karyotype abnormalities. Overall, understanding these prognostic factors can help guide treatment decisions and improve outcomes for patients with AML.

Heparin Induced Thrombocytopenia: A Transient Prothrombotic Disorder

Heparin induced thrombocytopenia (HIT) is a condition that is initiated by heparin and is characterized by a significant decrease in platelet count and increased thrombin production. This disorder usually occurs between days five to 10 of starting heparin, but can occur earlier if previously exposed. HIT is a transient prothrombotic disorder that can lead to both arterial and venous thrombosis. The management of HIT involves stopping heparin and commencing full dose anticoagulation with an alternative, such as lepirudin or danaparoid. Warfarin should not be used until the platelet count has recovered. An alternative anticoagulant must be continued until the international normalized ratio (INR) is therapeutic for two consecutive days. Recent guidelines on HIT can be found at the website of the British Society for Haematology.

In summary, HIT is a condition that can occur due to heparin use and is characterized by a significant decrease in platelet count and increased thrombin production. It is a transient prothrombotic disorder that can lead to both arterial and venous thrombosis. The management of HIT involves stopping heparin and commencing full dose anticoagulation with an alternative, such as lepirudin or danaparoid. Warfarin should not be used until the platelet count has recovered. It is important to follow recent guidelines on HIT to ensure proper management of this condition.

Phenothiazine Use and Neutropenia

This patient is experiencing a significant decrease in white blood cells, specifically neutrophils, resulting in pneumonia. The most likely cause of this condition is drug-induced neutropenia due to the patient’s history of phenothiazine use. Phenothiazines are known to interfere with DNA synthesis, leading to a decrease in bone marrow production. Similarly, chemotherapy drugs can also decrease production by killing marrow cells through cytotoxic action.

Aplastic anemia is unlikely as the patient’s hematocrit and platelet counts are normal, indicating that the defect is confined to the leukocytes. Additionally, there is no evidence of ineffective hematopoiesis, such as megaloblastic anemia, as the patient’s red blood cells are of normal size.

While pneumonia can cause accelerated destruction of neutrophils, it appears that the lack of neutrophils is the primary cause of the pneumonia in this case. Although shifts from the circulating pool to the marginal granulocyte pool can cause decreases in circulating neutrophils, they are typically temporary. Overall, the patient’s history of phenothiazine use is the most likely explanation for their current condition.

The patient has polycythaemia with high haemoglobin and haematocrit levels. The cause is likely to be primary erythrocytosis, specifically polycythaemia vera, due to low serum ferritin, high B12 levels, a palpable spleen, and aquagenic pruritus. The white cell and platelet counts are also elevated. Chronic myeloid leukaemia is unlikely due to the absence of a higher white cell count.

Guidelines for Investigating Heritable Thrombophilia

In 2009, the British Committee for Standards in Haematology (BCSH) released guidelines regarding the investigation of heritable thrombophilia. According to these guidelines, testing for thrombophilia is not necessary in cases of postoperative VTE as it is considered a provoked VTE. Additionally, asymptomatic relatives with low-risk thrombophilia such as factor V Leiden or the prothrombin gene mutation do not require testing. There is also no evidence to support testing for thrombophilia in cases of cerebral or coronary thrombosis.

However, if a child or neonate presents with purpura fulminans, urgent testing for protein C and S deficiency is recommended. Although ovarian hyperstimulation has been linked to an increased risk of thrombotic episodes, it is not an indication for thrombophilia testing. These guidelines aim to provide healthcare professionals with a clear of when thrombophilia testing is necessary and when it is not, ultimately improving patient care and outcomes.

Understanding Activated Protein C Resistance and Other Causes of Thrombophilia

Thrombophilia is a condition that increases the risk of blood clots forming in the veins or arteries. One of the most common inherited causes of thrombophilia is factor V Leiden, which affects 3-5% of the population. This condition is characterized by activated protein C resistance, which means that protein C, a natural anticoagulant, cannot inactivate factor V. This increases the prothrombotic potential of factor V and raises the risk of venous thromboembolism (VTE) by 4-5 times.

Other causes of thrombophilia include antiphospholipid syndrome, which is an acquired disorder associated with arterial and venous thromboses, thrombocytopenia, and fetal loss. Antithrombin III deficiency, which can be inherited or acquired, is less common than factor V Leiden. Protein C deficiency is another inherited thrombophilia caused by a lack of the natural anticoagulant protein C.

It is important to note that von Willebrand’s disease, the most common inherited cause of bleeding, is not a cause of thrombophilia.

Patients with confirmed VTE and factor V Leiden should receive three months of anticoagulant therapy. Cascade screening of adult family members is appropriate, and those who carry a factor V Leiden mutation can receive lifestyle counseling regarding contraception and long journeys. Understanding the different causes of thrombophilia can help healthcare providers make an accurate diagnosis and provide appropriate treatment.

When diagnosing erythrocytosis, it is important to conduct various tests and investigations. The JAK 2 V617F mutation test is positive in about 95% of individuals with polycythaemia vera. A blood film should also be done to rule out myeloproliferative disease, and renal and liver profiles and serum ferritin should be checked to ensure that iron deficiency is not masking the degree of erythrocytosis. Abdominal ultrasound is recommended for patients suspected of having polycythaemia vera, as this condition is often associated with radiographical splenomegaly.

If a patient has a low serum erythropoietin level, it may indicate primary bone marrow disease, even in the absence of the JAK 2 mutation. In such cases, testing for the rarer exon 12 mutation of JAK 2 should be done before resorting to a more invasive bone marrow biopsy. Conversely, a raised serum erythropoietin level may suggest an exogenous source, such as a cerebellar haemangioma or meningioma, which can be detected through a CT brain scan.

For patients without a JAK 2 mutation and a normal erythropoietin level, measuring red cell mass can help distinguish between true erythrocytosis and apparent erythrocytosis (normal red cell mass but reduced plasma volume). It is also important to consider rare congenital mutations in the erythropoietin receptor as a possible cause of primary erythrocytosis.

Understanding Polycythaemia Vera: Symptoms, Diagnosis, and Criteria

Polycythaemia vera is a type of myeloproliferative disorder that results from the clonal proliferation of a marrow stem cell, leading to an increase in red cell volume, neutrophils, and platelets. This condition is often accompanied by symptoms such as pruritus, splenomegaly, hypertension, hyperviscosity, arterial and venous thrombosis, and abnormal platelet function. The incidence of polycythaemia vera is highest in individuals in their sixth decade of life.

To diagnose polycythaemia vera, the British Committee for Standards in Haematology recommends performing a full blood count/film, JAK2 mutation test, serum ferritin test, and renal and liver function tests. If the JAK2 mutation is negative and there are no obvious secondary causes, additional tests such as red cell mass, arterial oxygen saturation, abdominal ultrasound, serum erythropoietin level, bone marrow aspirate and trephine, cytogenetic analysis, and erythroid burst-forming unit (BFU-E) culture may be performed.

The diagnostic criteria for polycythaemia vera have recently been updated by the BCSH. For JAK2-positive polycythaemia vera, diagnosis requires a high haematocrit or raised red cell mass and a mutation in JAK2. For JAK2-negative polycythaemia vera, diagnosis requires a raised red cell mass or high haematocrit, absence of JAK2 mutation, no cause of secondary erythrocytosis, palpable splenomegaly, and presence of an acquired genetic abnormality or thrombocytosis, neutrophil leucocytosis, radiological evidence of splenomegaly, or endogenous erythroid colonies/low serum erythropoietin. Understanding the symptoms and diagnostic criteria for polycythaemia vera is crucial for early detection and management of this condition.

Management of Philadelphia Positive Acute Lymphoblastic Leukaemia

Philadelphia positive acute lymphoblastic leukaemia has a worse prognosis compared to BCR-ABL negative ALL. To effectively manage this condition, a tailored approach is necessary. This involves administering high dose chemotherapy, such as UKALL 14 or hyper-CVAD, along with the anti-CD20 monoclonal antibody rituximab and a tyrosine kinase inhibitor due to the BCR-ABL positivity. Therefore, the correct management approach for Philadelphia positive acute lymphoblastic leukaemia is chemotherapy, rituximab, and a tyrosine kinase inhibitor (TKI). Proper management of this condition is crucial for improving patient outcomes.

Myelodysplasia has the potential to develop into AML, with myeloblasts being the likely culprit. This is supported by the significant decrease in haemoglobin, platelets, and white blood cells, as well as the emergence of B symptoms such as weight loss and fatigue. The fact that the patient previously had single lineage dysplasia causing refractory anaemia, but now has reduced platelets and white blood cells indicating bone marrow failure, is a key indicator. In AML, the immature myeloblasts are overproduced, which are not typically present in the blood.

Burr cells are an incorrect answer, as they are spiky red blood cells that are commonly found in chronic renal failure due to high levels of nitrogen in the blood destabilising the red cell membrane.

Lymphoblasts are also an incorrect answer, as these cells are only present in the peripheral blood film in acute lymphoblastic leukaemia.

Understanding Myelodysplastic Syndrome

Myelodysplastic syndrome, also known as myelodysplasia, is a type of acquired neoplastic disorder that affects the hematopoietic stem cells. This condition is considered a pre-leukemia and may progress to acute myeloid leukemia (AML). It is more common in older individuals and is characterized by bone marrow failure, which can lead to anemia, neutropenia, and thrombocytopenia.

As people age, their risk of developing myelodysplastic syndrome increases. This condition is caused by abnormalities in the hematopoietic stem cells, which can lead to a decrease in the production of healthy blood cells. As a result, individuals with myelodysplastic syndrome may experience symptoms such as fatigue, weakness, and an increased risk of infections and bleeding.

While myelodysplastic syndrome is a serious condition, there are treatment options available to manage symptoms and slow the progression of the disease. These may include blood transfusions, medications to stimulate blood cell production, and stem cell transplantation. It is important for individuals with myelodysplastic syndrome to work closely with their healthcare team to develop a personalized treatment plan.

PNH is a rare blood disorder that can cause a range of symptoms, including anaemia, discoloured urine, and increased red blood cell fragility. To diagnose PNH, doctors typically use the Ham’s acid haemolysis test, which involves placing blood cells in a mild acid to check for RBC haemolysis. Other tests, such as anticardiolipinantibodies for lupus, antiphospholipid antibodies for APLS, and factor V leiden levels for detection of the factor V leiden mutation, are used to diagnose other hypercoagulable states.

Understanding Paroxysmal Nocturnal Haemoglobinuria

Paroxysmal nocturnal haemoglobinuria (PNH) is a condition that causes the breakdown of haematological cells, mainly intravascular haemolysis. It is believed to be caused by a lack of glycoprotein glycosyl-phosphatidylinositol (GPI), which acts as an anchor that attaches surface proteins to the cell membrane. This leads to the improper binding of complement-regulating surface proteins, such as decay-accelerating factor (DAF), to the cell membrane. As a result, patients with PNH are more prone to venous thrombosis.

PNH can affect red blood cells, white blood cells, platelets, or stem cells, leading to pancytopenia. Patients may also experience haemoglobinuria, which is characterized by dark-coloured urine in the morning. Thrombosis, such as Budd-Chiari syndrome, is also a common feature of PNH. In some cases, patients may develop aplastic anaemia.

To diagnose PNH, flow cytometry of blood is used to detect low levels of CD59 and CD55. This has replaced Ham’s test as the gold standard investigation for PNH. Ham’s test involves acid-induced haemolysis, which normal red cells would not undergo.

Management of PNH involves blood product replacement, anticoagulation, and stem cell transplantation. Eculizumab, a monoclonal antibody directed against terminal protein C5, is currently being trialled and is showing promise in reducing intravascular haemolysis. Understanding PNH is crucial in managing this condition and improving patient outcomes.

Transfusion Reactions and Hyperviscosity in IgA Myeloma

From the blood results, it is evident that the patient is suffering from anaemia with a high level of monoclonal IgA. While bacterial contamination of red cells is rare, bacterial contamination of platelet units is more common and presents with fever, skin flushing, and rigors. Transfusion-associated graft versus host disease (TA-GVHD) is a rare but fatal complication that occurs post bone marrow transplantation. It is caused by donor lymphocytes in transfused cellular components, which recognise the recipient as foreign and cause bone marrow failure, liver dysfunction, and gastrointestinal symptoms. However, this case does not fit the symptoms of TA-GVHD.

Transfusion-related acute lung injury (TRALI) is characterised by respiratory distress, severe hypoxia, fever, and perihilar and nodular shadowing in the mid and lower zone of the CXR. It occurs soon after transfusion with no other apparent cause and is caused by preformed leucocyte antibodies. Cardiogenic causes of pulmonary oedema should be ruled out, but patients with TRALI have normal central venous pressure and normal/low pulmonary wedge pressure. However, the absence of fever and less severe hypoxia in this case make TRALI less likely.

The patient’s blood results indicate IgA myeloma, which can cause hyperviscosity. While IgM is most likely to cause hyperviscosity, IgA and IgG3 tend to aggregate and are more likely to be associated with hyperviscosity. This patient is showing symptoms of hyperviscosity, and their plasma volume increases with increasing viscosity, which can compromise cardiac function. Therefore, they should not be transfused until their viscosity has been lowered, as a rise in haematocrit can worsen their symptoms.

Primary immune thrombocytopenia (ITP) is a condition where autoantibodies attack platelet antigens, leading to platelet destruction and underproduction. This diagnosis is likely as the patient has no other apparent causes of coagulopathy, normal white cell counts and haemoglobin, no family history of bleeding disorders, and no organomegaly.

In treating ITP, human immunoglobulin (IVIG) can be used as an alternative to steroids, especially when there is a need to quickly raise platelet levels. IVIG has been shown to increase platelet counts within 12 to 24 hours and can be used as a diagnostic criterion for ITP. The effects of IVIG typically last for two to six weeks, making it useful for patients who require a temporary increase in platelet count or those who cannot tolerate glucocorticoids and are waiting for second-line therapy.

IV glucocorticoid therapy is not preferred in urgent situations such as surgery, where IVIG may be used as an adjunct or alternative therapy for patients with severe bleeding.

Immune Thrombocytopenia (ITP) in Adults: Symptoms, Diagnosis, and Treatment

Immune thrombocytopenia (ITP) is a condition where the immune system attacks platelets, leading to a reduction in their count. This condition is more common in older females and tends to be chronic in adults. Symptoms may include petechiae, purpura, and bleeding, but catastrophic bleeding is not a common presentation. ITP is usually detected incidentally during routine blood tests.

Diagnosis of ITP is based on a full blood count, which shows isolated thrombocytopenia, and a blood film. A bone marrow examination is no longer routinely used, and antiplatelet antibody testing has poor sensitivity and does not affect clinical management.

The first-line treatment for ITP is oral prednisolone, which is effective in most cases. Pooled normal human immunoglobulin (IVIG) may also be used, especially if active bleeding or an urgent invasive procedure is required. IVIG raises the platelet count quicker than steroids. Splenectomy, which used to be a common treatment for ITP, is now less commonly used.

In some cases, ITP may be associated with autoimmune haemolytic anaemia (AIHA), a condition known as Evan’s syndrome. In such cases, treatment may involve addressing both conditions simultaneously.

The patient’s symptoms suggest a cerebrovascular accident, which may be caused by their high platelet count. Chronic myelogenous leukemia (CML) is a likely diagnosis, as it often presents with thrombocytosis and a left-shifted white cell count. CML is also characterized by splenomegaly and the presence of the Philadelphia chromosome. Essential thrombocythemia may also present with splenomegaly, but it does not involve the translocation of chromosomes 9 and 22. Antiphospholipid syndrome typically presents with low platelet counts, while cerebral lupus usually presents with low platelets and pancytopenia. Acute myeloid leukemia is characterized by a maturational arrest in bone marrow cells, leading to a variety of blood test results including thrombocytopenia, anemia, and abnormal white cell counts.

Overview of Thrombotic and Haemorrhagic Disorders

Thrombotic and haemorrhagic disorders are a group of medical conditions that affect the blood clotting system. Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disorder that causes micro-angiopathic haemolytic anaemia, thrombocytopenia, neurological abnormalities, fever, and renal dysfunction. Idiopathic thrombocytopenic purpura (ITP) is a condition characterized by isolated thrombocytopenia with normal bone marrow in the absence of other causes of thrombocytopenia. Disseminated intravascular coagulation (DIC) is a complex systemic thrombo-haemorrhagic disorder that involves the generation of intravascular fibrin and the consumption of procoagulants and platelets. Haemolytic uraemic syndrome (HUS) is a condition that causes acute kidney disease, micro-angiopathic haemolytic anaemia, fever, and thrombocytopenia. Cocaine abuse can also cause lethal cardiovascular events, including myocardial infarction and ventricular arrhythmias, as well as intracerebral and subarachnoid haemorrhage. The exact mechanisms involved in these disorders are not fully understood, but treatments such as plasma exchange, fresh-frozen plasma, methylprednisolone, and red cell support can help manage symptoms and improve survival rates.

Whole-body MRI is recommended as the first-line imaging modality in suspected multiple myeloma to assess for bony involvement. X-rays and nuclear medicine scans are not recommended as first-line imaging. DEXA scans are used to assess fracture risk in patients with known or suspected osteoporosis.

Understanding Multiple Myeloma: Features and Investigations

Multiple myeloma is a type of cancer that affects the plasma cells in the bone marrow. It is most commonly found in patients aged 60-70 years. The disease is characterized by a range of symptoms, which can be remembered using the mnemonic CRABBI. These include hypercalcemia, renal damage, anemia, bleeding, bone lesions, and increased susceptibility to infection. Other features of multiple myeloma include amyloidosis, carpal tunnel syndrome, neuropathy, and hyperviscosity.

To diagnose multiple myeloma, a range of investigations are required. Blood tests can reveal anemia, renal failure, and hypercalcemia. Protein electrophoresis can detect raised levels of monoclonal IgA/IgG proteins in the serum, while bone marrow aspiration can confirm the diagnosis if the number of plasma cells is significantly raised. Imaging studies, such as whole-body MRI or X-rays, can be used to detect osteolytic lesions.

The diagnostic criteria for multiple myeloma require one major and one minor criteria or three minor criteria in an individual who has signs or symptoms of the disease. Major criteria include the presence of plasmacytoma, 30% plasma cells in a bone marrow sample, or elevated levels of M protein in the blood or urine. Minor criteria include 10% to 30% plasma cells in a bone marrow sample, minor elevations in the level of M protein in the blood or urine, osteolytic lesions, or low levels of antibodies in the blood. Understanding the features and investigations of multiple myeloma is crucial for early detection and effective treatment.

Interpretation of Abnormal Coagulation Test Results

When interpreting abnormal coagulation test results, it is important to consider the potential underlying causes. In this case, a prolonged activated partial thromboplastin time (APTT) was observed. Chronic liver disease was ruled out as a potential cause, as it typically results in a prolonged prothrombin time (PT).

The remaining options for a prolonged APTT include factor deficiencies and lupus anticoagulant. However, lupus anticoagulant is unique in that it does not correct when mixed with normal plasma. Therefore, it is important to investigate further with individual factor assays if the coagulation tests show correction on mixing.

In addition to the abnormal coagulation test results, the patient’s young age, suspected deep vein thrombosis, recurrent miscarriages, strokes, and thrombocytopenia suggest a potential diagnosis of antiphospholipid syndrome. It is important to consider all of these factors when interpreting abnormal coagulation test results and making a diagnosis.

Diagnosis of Pancytopenia in a Young Man

Pancytopenia is a condition where there is a decrease in the number of red blood cells, white blood cells, and platelets in the blood. In this case, a young man has been diagnosed with pancytopenia and a hypocellular marrow, which is most likely due to aplastic anaemia. Leukaemias are usually hypercellular, and myelodysplastic syndrome is uncommon in this age group. Haemolytic anaemias may also cause pancytopenia, but there are usually other indicators present in those cases.

Therefore, the diagnosis is not acute lymphoblastic, acute myeloid leukaemia, myelodysplastic syndrome, or haemolytic anaemia. However, if there is a previous history of ionising radiation or alkylating agent use, myelodysplastic syndrome may be a possibility. It is important to consider all possible causes and conduct further tests to confirm the diagnosis and determine the appropriate treatment plan.

This is a common situation that is often observed in the haematology outpatient clinic. The patient is likely experiencing temporary myelosuppression due to a viral infection, which is causing post-viral fatigue and malaise. Despite experiencing symptoms, the patient is in good overall health and does not exhibit any other concerning symptoms or signs, such as lymphadenopathy or splenomegaly. Although the patient’s neutrophil count has been decreasing, it has not dropped below 1, and the patient is not experiencing fever or sepsis. While the patient’s neutrophil count is slowly improving, it would be appropriate to conduct another full blood count to ensure that it returns to normal. If the count remains low, further investigation may be necessary.

Understanding Neutropaenia: Causes and Severity

Neutropaenia is a medical condition characterized by low neutrophil counts, which is below 1.5 * 109. A normal neutrophil count ranges from 2.0 to 7.5 * 109. It is crucial to recognize this condition as it increases the risk of severe infections. Neutropaenia can be classified into three categories based on its severity: mild, moderate, and severe. Mild neutropaenia is when the neutrophil count ranges from 1.0 to 1.5 * 109, moderate neutropaenia is when the count ranges from 0.5 to 1.0 * 109, and severe neutropaenia is when the count is less than 0.5 * 109.

There are several causes of neutropaenia, including viral infections such as HIV, Epstein-Barr virus, and hepatitis. Certain drugs like cytotoxics, carbimazole, and clozapine can also cause neutropaenia. Benign ethnic neutropaenia is common in people of black African and Afro-Caribbean ethnicity, and it requires no treatment. Haematological malignancies like myelodysplastic malignancies and aplastic anemia, as well as rheumatological conditions like systemic lupus erythematosus and rheumatoid arthritis, can also cause neutropaenia. Severe sepsis and haemodialysis are other potential causes of neutropaenia.

In conclusion, neutropaenia is a medical condition that requires prompt recognition and management to prevent severe infections. The severity of neutropaenia is classified based on the neutrophil count, and there are several causes of this condition, including viral infections, drugs, and haematological malignancies. Understanding the causes and severity of neutropaenia is crucial in providing appropriate treatment and care for patients.

The patient has lymphoma and tumour lysis syndrome with severe electrolyte disturbance, pulmonary oedema, cardiac toxicity, acute renal failure, and hyperuricaemia. The treatment for the underlying condition should be rasburicase as the patient is intolerant to allopurinol.

Understanding Tumour Lysis Syndrome

Tumour lysis syndrome (TLS) is a life-threatening condition that can occur during the treatment of high-grade lymphomas and leukaemias. It is caused by the breakdown of tumour cells and the release of chemicals into the bloodstream. While it can occur without chemotherapy, it is usually triggered by the introduction of combination chemotherapy. Patients at high risk of TLS should be given prophylactic medication such as IV allopurinol or IV rasburicase to prevent the potentially deadly effects of tumour cell lysis.

TLS leads to a high potassium and high phosphate level in the presence of a low calcium. It should be suspected in any patient presenting with an acute kidney injury in the presence of a high phosphate and high uric acid level. From 2004, TLS has been graded using the Cairo-Bishop scoring system, which takes into account laboratory and clinical factors.

It is important to be aware of TLS and take preventative measures to avoid its potentially fatal consequences. By understanding the causes and symptoms of TLS, healthcare professionals can provide appropriate treatment and improve patient outcomes.

The patient is experiencing secondary erythrocytosis due to hypoxia caused by obstructive sleep apnoea. This condition is causing significant hyperviscosity symptoms and increases the risk of thrombotic complications. Treatment for erythrocytosis secondary to OSA involves venesection if hyperviscosity symptoms are present or if the patient’s PCV is greater than 0.56. A target PCV of 0.50-0.52 can improve exercise tolerance. Aspirin is the primary treatment for polycythaemia vera, while cytoreductive treatments like hydroxyurea are used in high-risk cases. Although weight loss and better compliance with OSA treatment may improve erythrocytosis, these interventions may take time to produce symptomatic relief. The BMJ article The diagnosis and management of erythrocytosis by Keohane, McMullin, and Harrison provides further information on this topic.

Polycythaemia is a condition that can be classified as relative, primary (polycythaemia rubra vera), or secondary. Relative polycythaemia can be caused by dehydration or stress, such as in Gaisbock syndrome. Primary polycythaemia rubra vera is a rare blood disorder that causes the bone marrow to produce too many red blood cells. Secondary polycythaemia can be caused by conditions such as COPD, altitude, obstructive sleep apnoea, or excessive erythropoietin production due to certain tumors or growths. To distinguish between true polycythaemia and relative polycythaemia, red cell mass studies may be used. In true polycythaemia, the total red cell mass in males is greater than 35 ml/kg and in women is greater than 32 ml/kg. Uterine fibroids may also cause polycythaemia indirectly by causing menorrhagia, but this is rarely a clinical problem.

Chronic Lymphocytic Leukaemia (CLL)

Chronic Lymphocytic Leukaemia (CLL) is a type of cancer that affects older people and is characterized by a high lymphocyte count. Diagnosis is easy to make, especially if the patient had a high lymphocyte count twelve months ago. Unlike Acute Lymphoblastic Leukaemia, CLL progresses slowly and does not require immediate treatment. Observation is recommended, and treatment is only necessary if certain criteria are met. These include a lymphocyte doubling time of less than six months, bone marrow compromise, autoimmune complications, or disabling B symptoms. If any of these criteria are met, first-line treatment is with chlorambucil, with prednisolone sometimes added to make the patient feel better. Fludarabine is second-line treatment. Leucapheresis, a procedure that removes white cells from the peripheral blood, is not used in CLL.

Overall, CLL is important for patients and healthcare providers alike. While there is no cure for CLL in older patients, proper observation and treatment can help manage symptoms and improve quality of life. By knowing the criteria for treatment and the available options, patients and healthcare providers can work together to make informed decisions about managing this condition.

Possible Causes of Anemia

Anemia can be caused by various factors, but the most likely cause is progressive renal failure. This condition leads to a decrease in the release of erythropoietin from the kidneys, which is essential for the production of red blood cells. Sideroblastic anemia, which is a type of myelodysplasia, is commonly seen in older age groups. However, it is not the most probable cause of anemia. Other possible causes include chronic lymphocytic leukemia (CLL) and microangiopathic hemolysis. However, these causes are less likely to be the reason for anemia. It is essential to identify the underlying cause of anemia to provide appropriate treatment and management. Proper diagnosis and treatment can help improve the quality of life of individuals with anemia.

Burkitt’s Lymphoma

Burkitt’s lymphoma is a high-grade lymphoma that is characterized by a specific cytogenetic abnormality known as a reciprocal translocation t(8;14). This type of lymphoma is different from mantle cell lymphoma and follicular lymphoma, which are characterized by different cytogenetic abnormalities. Burkitt’s lymphoma is a haematological emergency that requires immediate diagnosis and treatment with intensive chemotherapy due to its high cell turnover. Fortunately, this type of lymphoma has high response rates to treatment.

In summary, Burkitt’s lymphoma is a unique type of lymphoma that requires prompt diagnosis and treatment. Its specific cytogenetic abnormality sets it apart from other types of lymphoma, and intensive chemotherapy is the primary treatment option. With proper treatment, patients with Burkitt’s lymphoma have a good chance of recovery.

Understanding Chronic Myeloid Leukaemia: A Comparison with Other Haematological Disorders

Chronic myeloid leukaemia (CML) is a type of myeloproliferative disorder that results from the uncontrolled proliferation of myeloid cells. This abnormality involves the haematopoietic stem cell and a reciprocal chromosomal translocation, which leads to the Philadelphia (Ph) chromosome. This chromosome is present in the granulocyte, red blood cell, and platelet precursors of over 95% of patients with CML. One of the notable features of CML is the presence of variably shaped erythrocytes, known as poikilocytes.

When compared to other haematological disorders, CML stands out due to its marked elevation in white blood cell count, thrombocytopenia, and mild anaemia. Polycythaemia rubra vera, on the other hand, is associated with a predominant elevation in haemoglobin. Sideroblastic anaemia is characterised by the formation of ring sideroblasts, which is caused by defective incorporation of iron into red blood cells. Essential thrombocythaemia primarily leads to an increase in platelet count, while thalassaemia would not account for the marked elevation in white blood cell count with immature red blood cells seen in CML.

In summary, understanding the unique features of CML and how it differs from other haematological disorders is crucial for accurate diagnosis and effective management of the disease.