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Question 1
Correct
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A 42-year-old female presents to her primary care physician with a 2-month history of progressive fatigue. She has a medical history of type-1 diabetes mellitus. Her doctor orders a full blood count, which reveals a low Hb and high mean cell volume. The platelet and WBC counts are within normal limits. Which antibody test should be performed to assist in the diagnosis?
Your Answer: Intrinsic-factor antibodies
Explanation:When investigating vitamin B12 deficiency, intrinsic factor antibodies are more useful than gastric parietal cell antibodies due to the low specificity of the latter. Megaloblastic anaemia, characterized by low haemoglobin and raised mean cell volume, can be caused by B12 or folate deficiency and may indicate pernicious anaemia, an autoimmune condition that impairs B12 uptake. Intrinsic factor antibodies are more specific for pernicious anaemia and are commonly used to confirm the diagnosis along with a blood test. Anti-histone antibodies are involved in drug-induced lupus caused by certain drugs. Anti-TTG antibodies are used to screen for coeliac disease, which can cause microcytic anaemia due to iron deficiency from malabsorption. While gastric parietal cell antibodies are linked to pernicious anaemia, their low specificity makes them less reliable for diagnosis compared to intrinsic factor antibodies.
Understanding Pernicious Anaemia
Pernicious anaemia is a condition that results in vitamin B12 deficiency due to an autoimmune disorder affecting the gastric mucosa. The term pernicious means causing harm in a gradual or subtle way, and this is reflected in the often subtle symptoms and delayed diagnosis of the condition. While pernicious anaemia is the most common cause of vitamin B12 deficiency, other causes include atrophic gastritis, gastrectomy, and malnutrition.
The pathophysiology of pernicious anaemia involves antibodies to intrinsic factor and/or gastric parietal cells. These antibodies can bind to intrinsic factor, blocking the vitamin B12 binding site, or reduce acid production and cause atrophic gastritis. This leads to reduced intrinsic factor production and reduced vitamin B12 absorption, which can result in megaloblastic anaemia and neuropathy.
Risk factors for pernicious anaemia include being female, middle to old age, and having other autoimmune disorders such as thyroid disease, type 1 diabetes mellitus, Addison’s, rheumatoid arthritis, and vitiligo. It is also more common in individuals with blood group A.
Symptoms of pernicious anaemia include anaemia features such as lethargy, pallor, and dyspnoea, as well as neurological features such as peripheral neuropathy and subacute combined degeneration of the spinal cord. Neuropsychiatric features such as memory loss, poor concentration, confusion, depression, and irritability may also be present, along with mild jaundice and glossitis.
Diagnosis of pernicious anaemia involves a full blood count, vitamin B12 and folate levels, and testing for antibodies such as anti intrinsic factor antibodies and anti gastric parietal cell antibodies. Treatment involves vitamin B12 replacement, usually given intramuscularly, and folic acid supplementation may also be required. Complications of pernicious anaemia include an increased risk of gastric cancer.
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This question is part of the following fields:
- Haematology/Oncology
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Question 2
Incorrect
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A 35-year-old male is diagnosed with macrocytic anaemia. The patient is suspected to have a folate deficiency.
Which of the following statements is most accurate regarding folate deficiency?
Your Answer:
Correct Answer: It increases the risk of a neural tube defect in the foetus.
Explanation:Understanding Folic Acid Deficiency: Causes and Effects
Folic acid deficiency is a serious condition that can have detrimental effects on fetal development and overall health. In this article, we will explore the causes and effects of folic acid deficiency.
Causes of Folic Acid Deficiency
Reduced intake is the most common cause of folic acid deficiency. This can occur due to an inadequate diet or malabsorption. Excessive urinary production, drugs, and excessive requirements can also contribute to folic acid deficiency.
Effects of Folic Acid Deficiency
Folic acid deficiency is associated with neural tube defects in the fetus, which can lead to serious developmental issues. It can also increase the risk of abruption of the placenta and spontaneous abortion. In severe cases, megaloblastic anemia can develop, but this typically takes more than two years after complete cessation of folic acid intake.
Treatment of Folic Acid Deficiency
Methotrexate-induced folic acid deficiency can be corrected with concomitant folic acid therapy. Folinic acid is also effective in treating toxicity caused by methotrexate. Intestinal bacterial overgrowth is not a common cause of folic acid deficiency.
Distinguishing Folic Acid Deficiency from Vitamin B12 Deficiency
Abnormal neurological findings are associated with vitamin B12 deficiency, but not necessarily with folic acid deficiency. Patients with megaloblastic anemia typically do not exhibit neurological symptoms, which suggests that folic acid deficiency is the cause.
In conclusion, folic acid deficiency is a serious condition that can have significant effects on fetal development and overall health. It is important to understand the causes and effects of this condition in order to prevent and treat it effectively.
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This question is part of the following fields:
- Haematology/Oncology
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Question 3
Incorrect
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A 4-year-old girl presents to the Emergency Department with haemarthrosis in the knee and elbow after a trivial injury. She is otherwise fit and well. The patient’s mother suffers from Christmas disease.
What investigation should be organised to confirm this diagnosis in this patient?Your Answer:
Correct Answer: Factor IX activity level
Explanation:Diagnostic Tests for Haemophilia and Related Conditions
Haemophilia is a genetic disorder that affects the blood’s ability to clot properly, leading to spontaneous or excessive bleeding. To diagnose haemophilia and related conditions, several diagnostic tests are available.
Factor IX Activity Level: Lack of factor IX leads to Christmas disease, the second most common type of haemophilia. To diagnose haemophilia, the levels of clotting factor present in the blood must be measured.
Platelet Count: The platelet count is usually normal in patients with haemophilia. Reduced platelets would suggest an alternative diagnosis. However, it is still important to check the platelet count to exclude thrombocytopenia as a cause of unexplained bleeding.
Activated Partial Thromboplastin Time (aPTT): Blood tests in haemophilia usually demonstrate a prolonged aPTT. However, patients with moderate disease can still have a normal aPTT if their factor activity level is > 15%.
Urinalysis: Urinalysis in patients with haemophilia may demonstrate the presence of haematuria, but by itself is not diagnostic of the condition.
von Willebrand Factor Antigen: The plasma von Willebrand factor antigen is normal in individuals with haemophilia. Reduced von Willebrand factor suggests the possibility of von Willebrand disease (VWD).
In conclusion, a combination of these diagnostic tests is necessary to diagnose haemophilia and related conditions accurately.
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This question is part of the following fields:
- Haematology/Oncology
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Question 4
Incorrect
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A 70-year-old man with a 12-year history of gastro-oesophageal reflux disease presents with dysphagia. Upon endoscopy, an obstructive lesion is observed that is highly suspicious of oesophageal cancer. What is the expected result of the biopsy?
Your Answer:
Correct Answer: Adenocarcinoma
Explanation:Gastroesophageal reflux disease (GORD) or Barrett’s esophagus are linked to the development of oesophageal adenocarcinoma.
Oesophageal Cancer: Types, Risk Factors, Features, Diagnosis, and Treatment
Oesophageal cancer used to be mostly squamous cell carcinoma, but adenocarcinoma is now becoming more common, especially in patients with a history of gastro-oesophageal reflux disease (GORD) or Barrett’s. Adenocarcinoma is usually located near the gastroesophageal junction, while squamous cell tumours are found in the upper two-thirds of the oesophagus.
Risk factors for adenocarcinoma include GORD, Barrett’s oesophagus, smoking, achalasia, and obesity. Squamous cell cancer is more common in the developing world and is associated with smoking, alcohol, achalasia, Plummer-Vinson syndrome, and diets rich in nitrosamines.
The most common presenting symptom for both types of oesophageal cancer is dysphagia, followed by anorexia and weight loss. Other possible features include odynophagia, hoarseness, melaena, vomiting, and cough.
Diagnosis is done through upper GI endoscopy with biopsy, endoscopic ultrasound for locoregional staging, CT scanning for initial staging, and FDG-PET CT for detecting occult metastases. Laparoscopy may also be performed to detect occult peritoneal disease.
Operable disease is best managed by surgical resection, with the most common procedure being an Ivor-Lewis type oesophagectomy. However, the biggest surgical challenge is anastomotic leak, which can result in mediastinitis. Adjuvant chemotherapy may also be used in many patients.
Overall, oesophageal cancer is a serious condition that requires prompt diagnosis and treatment. Understanding the types, risk factors, features, diagnosis, and treatment options can help patients and healthcare providers make informed decisions about managing this disease.
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This question is part of the following fields:
- Haematology/Oncology
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Question 5
Incorrect
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A 55-year-old woman presents with weight loss and anaemia. She has no significant medical history. Upon examination, she has massive splenomegaly and pale conjunctivae. Her full blood count shows a Hb of 10.9 g/dl, platelets of 702 * 109/l, and a WCC of 56.6 * 109/l. Leucocytosis is noted on her film, with all stages of granulocyte maturation seen. What is the most probable diagnosis?
Your Answer:
Correct Answer: Chronic myeloid leukaemia
Explanation:Massive splenomegaly can be caused by myelofibrosis, chronic myeloid leukemia, visceral leishmaniasis (kala-azar), malaria, and Gaucher’s syndrome. Among these, chronic myeloid leukemia is the most probable diagnosis, as it is the most common cause.
Understanding Chronic Myeloid Leukaemia and its Management
Chronic myeloid leukaemia (CML) is a type of cancer that affects the blood and bone marrow. It is characterized by the presence of the Philadelphia chromosome in more than 95% of patients. This chromosome is formed due to a translocation between chromosomes 9 and 22, resulting in the fusion of the ABL proto-oncogene and the BCR gene. The resulting BCR-ABL gene produces a fusion protein that has excessive tyrosine kinase activity.
CML typically affects individuals between 60-70 years of age and presents with symptoms such as anaemia, weight loss, sweating, and splenomegaly. The condition is also associated with an increase in granulocytes at different stages of maturation and thrombocytosis. In some cases, CML may undergo blast transformation, leading to acute myeloid leukaemia (AML) or acute lymphoblastic leukaemia (ALL).
The management of CML involves various treatment options, including imatinib, which is considered the first-line treatment. Imatinib is an inhibitor of the tyrosine kinase associated with the BCR-ABL defect and has a very high response rate in the chronic phase of CML. Other treatment options include hydroxyurea, interferon-alpha, and allogenic bone marrow transplant. With proper management, individuals with CML can lead a normal life.
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This question is part of the following fields:
- Haematology/Oncology
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Question 6
Incorrect
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A 56-year-old man with a history of epilepsy and ischaemic heart disease presents to the clinic with a complaint of feeling lethargic for the past 3 months. Upon conducting blood tests, the following results were obtained: Hb 9.6 g/dl, MCV 123 fl, Plt 164 * 109/l, WCC 4.6 *109/l. Which medication is the most likely cause of his symptoms?
Your Answer:
Correct Answer: Phenytoin
Explanation:Phenytoin: Mechanism of Action and Adverse Effects
Phenytoin is a medication used to manage seizures. Its mechanism of action involves binding to sodium channels, which increases their refractory period. However, the drug is associated with a large number of adverse effects, which can be categorized as acute, chronic, idiosyncratic, and teratogenic. Acute effects include dizziness, diplopia, nystagmus, slurred speech, ataxia, confusion, and seizures. Chronic effects include gingival hyperplasia, hirsutism, coarsening of facial features, drowsiness, megaloblastic anemia, peripheral neuropathy, enhanced vitamin D metabolism causing osteomalacia, lymphadenopathy, and dyskinesia. Idiosyncratic effects include fever, rashes, hepatitis, Dupuytren’s contracture, aplastic anemia, and drug-induced lupus. Teratogenic effects are associated with cleft palate and congenital heart disease. Although routine monitoring of phenytoin levels is not necessary, trough levels should be checked before dosing in cases of dose adjustment, suspected toxicity, or non-adherence to the prescribed medication.
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This question is part of the following fields:
- Haematology/Oncology
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Question 7
Incorrect
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A 35-year-old woman presents to her General Practitioner complaining of fatigue and lack of energy. She has a 1-year history of heavy menstrual bleeding with excessive blood loss. She is clinically anaemic.
Investigations:
Investigation Result Normal value
Haemoglobin (Hb) 102 g/l 115–155 g/l
Haematocrit 28% 36–47%
Mean corpuscular volume (MCV) 70 fl 80–100 fl
Mean cell haemoglobin (MCH) 25 pg 28–32 pg
Mean corpuscular haemoglobin volume (MCHC) 300 g/l 320–350 g/d
White cell count (WCC) 7.5 × 109/l 4.0–11.0× 109/l
Platelets (PLT) 400× 109/l 150–400× 109/l
What is the most appropriate dietary advice for this patient?
Select the SINGLE advice option from the list below.Your Answer:
Correct Answer: She should increase her intake of vitamin C-rich and iron-rich food
Explanation:To address her iron-deficiency anaemia, the patient should consume more foods rich in vitamin C and iron. Vitamin C can increase iron absorption by up to 10 times and maintain iron in its ferrous form. However, she should avoid breakfast cereals and white breads as they are often fortified with iron. Tea should also be avoided during meals or when taking iron supplements as it contains tannin, which reduces iron absorption. While a vegetarian diet can still provide non-haem iron, it is important to consume a variety of iron-rich plant-based foods. A gluten-free diet is only necessary if coeliac disease is present, which is unlikely in this case as the patient’s iron-deficiency anaemia is likely due to menorrhagia.
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This question is part of the following fields:
- Haematology/Oncology
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Question 8
Incorrect
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A 45-year-old woman is referred by her general practitioner due to complaints of headache, fatigue and weakness. Recently, she had a prolonged menstrual bleeding that only stopped after the application of compression for a long time. She also suffered from a urinary tract infection the previous month. She has no family history of a bleeding disorder.
On examination, she has pallor, hepatosplenomegaly and lymphadenopathy. Investigations reveal that she has a low haemoglobin level, a low white blood cell count and a low platelet count; numerous blast cells are visible on peripheral blood film. Bone marrow biopsy reveals 30% of blast cells. The blood film is shown below.
Which one of the following is the most likely diagnosis?Your Answer:
Correct Answer: Acute myeloid leukaemia (AML)
Explanation:Leukaemia is a type of cancer that affects the blood and bone marrow. There are several types of leukaemia, including acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL), chronic lymphocytic leukaemia (CLL), chronic myeloid leukaemia (CML), and hairy cell leukaemia. AML is characterized by the rapid proliferation of immature myeloid cells called blasts, which can cause anaemia, thrombocytopenia, bleeding problems, and an increased risk of infections. ALL is caused by a clonal proliferation of lymphoid precursors, which can lead to pancytopenia and symptoms such as fever and abdominal pain. CLL is the most common type of leukaemia and is caused by the clonal proliferation of monoclonal B lymphocytes. CML is the rarest form of leukaemia and is caused by a chromosomal translocation involving chromosomes 9 and 22. Hairy cell leukaemia is characterized by the presence of abnormal white cells with hair-like cytoplasmic projections. Treatment for leukaemia typically involves chemotherapy and sometimes a bone marrow transplant, depending on the type of disease present. Prognosis varies depending on the type of leukaemia and the age of the patient.
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This question is part of the following fields:
- Haematology/Oncology
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Question 9
Incorrect
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A 72-year-old patient with chronic lymphocytic leukaemia presents to the emergency department with haematemesis. Urgent blood tests are taken and blood products ordered from the laboratory.
A full blood count shows:
Hb 76 g/L Male: (135-180) Female: (115 - 160)
Platelets 26 * 109/L (150 - 400)
WBC 21.8 * 109/L (4.0 - 11.0)
Which blood product carries the highest risk for this immunocompromised patient?Your Answer:
Correct Answer: Platelets
Explanation:Platelet transfusions have the highest risk of bacterial contamination due to their short shelf life and refrigeration. This patient requires both red blood cells and platelets, but caution should be taken with platelet transfusions due to the risk of contamination. Cryoprecipitate and plasma have lower contamination risks and can be stored for longer periods. Packed red cells can also be used and have a longer shelf life.
Platelet Transfusion Guidelines for Active Bleeding and Pre-Invasive Procedures
Platelet transfusions are recommended for patients with thrombocytopenia and clinically significant bleeding, such as haematemesis, melaena, or prolonged epistaxis, with a platelet count of less than 30 x 10 9. For severe bleeding or bleeding at critical sites, such as the CNS, platelet thresholds for transfusion are higher, with a maximum of less than 100 x 10 9. However, it should be noted that platelet transfusions have a higher risk of bacterial contamination compared to other types of blood products.
For pre-invasive procedures, platelet transfusions are recommended to maintain platelet levels of greater than 50 x 10 9/L for most patients, 50-75 x 10 9/L for those at high risk of bleeding, and greater than 100 x 10 9/L for surgeries at critical sites. However, if there is no active bleeding or planned invasive procedure, a threshold of 10 x 10 9/L is recommended, unless platelet transfusion is contraindicated or there are alternative treatments available for the patient’s condition.
It is important to note that platelet transfusions should not be performed for chronic bone marrow failure, autoimmune thrombocytopenia, heparin-induced thrombocytopenia, or thrombotic thrombocytopenic purpura. These guidelines aim to provide appropriate and safe platelet transfusion practices for patients with thrombocytopenia.
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This question is part of the following fields:
- Haematology/Oncology
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Question 10
Incorrect
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A 49-year-old homeless man has been admitted to the emergency department after collapsing with sudden onset left side hemiparesis and facial droop. A CT scan has revealed a large intracerebral haemorrhage, which is likely to have occurred spontaneously. The patient's medical and family history is unknown, but you suspect that coagulopathy may be the cause of the spontaneous bleed. The clotting profile and specific clotting factor levels are as follows:
- PT prolonged
- APTT prolonged
- Factor VIII high
- Factor II low
- Factor V low
- Factor VII low
- Factor IX low
- Von Willebrand factor high
What is the most probable reason for the coagulopathy?Your Answer:
Correct Answer: Liver failure
Explanation:It is highly probable that the individual is suffering from liver failure as all clotting factors, except for factor VIII, are below normal levels. In cases of liver failure, both PT and APTT may be prolonged. Haemophilia A and B are unlikely as they result in deficiencies of specific clotting factors, whereas Von Willebrand disease may have low levels of Von Willebrand factor but the other factors remain unaffected. Disseminated intravascular coagulation, on the other hand, leads to depletion of all clotting factors.
Coagulopathy in Liver Disease: Paradoxical Supra-normal Factor VIII and Increased Thrombosis Risk
In liver failure, the levels of all clotting factors decrease except for factor VIII, which paradoxically increases. This is because factor VIII is synthesized not only in hepatic endothelial cells but also in endothelial cells throughout the body. Moreover, good hepatic function is required for the rapid clearance of activated factor VIII from the bloodstream, leading to further increases in circulating factor VIII. Despite conventional coagulation studies suggesting an increased risk of bleeding, patients with chronic liver disease are paradoxically at an increased risk of thrombosis formation. This is due to several factors, including reduced synthesis of natural anticoagulants such as protein C, protein S, and anti-thrombin, which are all essential for preventing thrombosis.
Reference
Tripodi et al. An imbalance of pro- vs anti-coagulation factors in plasma from patients with cirrhosis. Gastroenterology. 2009 Dec;137(6):2105-11. -
This question is part of the following fields:
- Haematology/Oncology
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