Differential Diagnosis of Anaemia: Understanding the Causes

Anaemia is a common condition that can be caused by a variety of factors. Here, we will discuss some of the possible causes of anaemia and their corresponding laboratory findings.

Pernicious Anaemia: This type of anaemia is caused by a deficiency in vitamin B12 due to impaired intrinsic factor (IF) production. It is usually seen in adults aged 40-70 years and is characterized by megaloblastic changes in rapidly dividing cells. Anti-parietal cell antibodies are present in 90% of patients with pernicious anaemia. The Schilling test is useful in confirming the absence of IF. Treatment involves parenteral administration of cyanocobalamin or hydroxycobalamin.

Chronic Myeloid Leukaemia: CML is a myeloproliferative disorder that results in increased proliferation of granulocytic cells. Symptoms include fatigue, anorexia, weight loss, and hepatosplenomegaly. Mild to moderate anaemia is usually normochromic and normocytic. Diagnosis is based on histopathological findings in the peripheral blood and Philadelphia chromosome in bone marrow cells.

Iron Deficiency Anaemia: This type of anaemia is primarily a laboratory diagnosis and is characterized by microcytic and hypochromic erythropoiesis. It is caused by chronic iron deficiency and can be due to multiple causes, including chronic inflammation, iron malabsorption, chronic blood loss, and malabsorption of vitamin B12 or folate.

Crohn’s Disease: This chronic inflammatory process can affect any part of the GI tract and can cause anaemia due to chronic inflammation, iron malabsorption, chronic blood loss, and malabsorption of vitamin B12 or folate. However, the lack of GI symptoms in the clinical scenario provided is not consistent with a history of inflammatory bowel disease.

Autoimmune Hepatitis: This chronic disease is characterized by continuing hepatocellular inflammation and necrosis, with a tendency to progress to cirrhosis. Elevated serum aminotransferase levels are present in 100% of patients at initial presentation. Anaemia, if present, is usually normochromic. However, this clinical picture and laboratory findings are not consistent with the scenario given.

In conclusion, understanding the different causes of anaemia and their corresponding laboratory findings is crucial in making an accurate diagnosis and providing appropriate treatment.

Sickle cell anaemia is a genetic disorder that follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent who are carriers of the condition. Huntington’s Disease is an example of an autosomal dominant condition, while Fragile X syndrome is an example of an X-linked dominant condition. Haemophilia is an example of an X-linked recessive condition, and alpha-1 antitrypsin deficiency is an example of a co-dominant condition.

Sickle-cell anaemia is a genetic disorder that occurs when abnormal haemoglobin, known as HbS, is produced due to an autosomal recessive condition. This condition is more common in individuals of African descent, as the heterozygous condition provides some protection against malaria. About 10% of UK Afro-Caribbean’s are carriers of HbS, and they only experience symptoms if they are severely hypoxic. Homozygotes tend to develop symptoms between 4-6 months when the abnormal HbSS molecules replace fetal haemoglobin.

The pathophysiology of sickle-cell anaemia involves the substitution of the polar amino acid glutamate with the non-polar valine in each of the two beta chains (codon 6) of haemoglobin. This substitution decreases the water solubility of deoxy-Hb, causing HbS molecules to polymerise and sickle RBCs in the deoxygenated state. HbAS patients sickle at p02 2.5 – 4 kPa, while HbSS patients sickle at p02 5 – 6 kPa. Sickle cells are fragile and haemolyse, blocking small blood vessels and causing infarction.

The definitive diagnosis of sickle-cell anaemia is through haemoglobin electrophoresis.

The regular surveillance evaluations that were conducted at 8 months, 2 years, and 3-4 years have been discontinued. Nevertheless, if a child is considered to be in a vulnerable situation, it is recommended to conduct more frequent assessments.

Child Health Surveillance in the UK

Child health surveillance in the UK involves a series of checks and tests to ensure the well-being of children from before birth to pre-school age. During the antenatal period, healthcare professionals ensure that the baby is growing properly and check for any maternal infections that may affect the baby. An ultrasound scan is also performed to detect any fetal abnormalities, and blood tests are done to check for neural tube defects.

After birth, a clinical examination of the newborn is conducted, and a hearing screening test is performed. The mother is given a Personal Child Health Record, which contains important information about the child’s health. Within the first month, a heel-prick test is done to check for hypothyroidism, PKU, metabolic diseases, cystic fibrosis, and medium-chain acyl Co-A dehydrogenase deficiency (MCADD). A midwife visit may also be conducted within the first four weeks.

In the following months, health visitor input is provided, and a GP examination is done at 6-8 weeks. Routine immunisations are also given during this time. Ongoing monitoring of growth, vision, and hearing is conducted, and health professionals provide advice on immunisations, diet, and accident prevention.

In pre-school, a national orthoptist-led programme for pre-school vision screening is set to be introduced. Overall, child health surveillance in the UK aims to ensure that children receive the necessary care and attention to promote their health and well-being.

Understanding the Symptoms of Acutely Painful Red Eye

A red eye can be a sign of various eye conditions, including conjunctivitis, anterior uveitis, scleritis, and more. One of the most common symptoms of conjunctivitis is profuse discharge, which can cause the eyelids to stick together on waking. On the other hand, anterior uveitis can cause blurred vision, small pupil, and photophobia. Scleritis, an inflammatory disease that affects the sclera, can cause severe pain that worsens with eye movement and may radiate to the forehead or jaw. It’s essential to seek medical attention promptly if you experience any of these symptoms, as they can indicate a serious underlying condition.

Abdominal wall hernias occur when an organ or the fascia of an organ protrudes through the wall of the cavity that normally contains it. Risk factors for developing these hernias include obesity, ascites, increasing age, and surgical wounds. Symptoms of abdominal wall hernias include a palpable lump, cough impulse, pain, obstruction (more common in femoral hernias), and strangulation (which can compromise the bowel blood supply and lead to infarction). There are several types of abdominal wall hernias, including inguinal hernias (which account for 75% of cases and are more common in men), femoral hernias (more common in women and have a high risk of obstruction and strangulation), umbilical hernias (symmetrical bulge under the umbilicus), paraumbilical hernias (asymmetrical bulge), epigastric hernias (lump in the midline between umbilicus and xiphisternum), incisional hernias (which may occur after abdominal surgery), Spigelian hernias (rare and seen in older patients), obturator hernias (more common in females and can cause bowel obstruction), and Richter hernias (a rare type of hernia that can present with strangulation without symptoms of obstruction). In children, congenital inguinal hernias and infantile umbilical hernias are the most common types, with surgical repair recommended for the former and most resolving on their own for the latter.

– Adie pupil: A condition where the pupil is constantly dilated and reacts slowly to light, but responds better to accommodation. It is caused by damage to the parasympathetic innervation of the eye due to viral or bacterial infection. It is more commonly seen in females and is often accompanied by absent knee or ankle jerks.
– Marcus-Gunn pupil: A relative afferent pupillary defect that is observed during the swinging light examination of pupil response. The pupils constrict less and appear to dilate when a light is swung from the unaffected to the affected eye. This condition is most commonly caused by damage to the optic nerve or severe retinal disease.
– Horner’s syndrome: A condition characterized by miosis (pupillary constriction), ptosis (droopy eyelid), apparent enophthalmos (inset eyeball), with or without anhidrosis (decreased sweating) occurring on one side. It is caused by damage to the sympathetic trunk on the same side as the symptoms, due to trauma, compression, infection, ischaemia, or other causes.
– Hutchinson’s pupil: A condition where the pupil on one side is unilaterally dilated and unresponsive to light. It is caused by compression of the occulomotor nerve on the same side, usually by an intracranial mass such as a tumor or hematoma.

Argyll-Robertson Pupil: A Classic Pupillary Syndrome

The Argyll-Robertson Pupil (ARP) is a classic pupillary syndrome that is sometimes observed in neurosyphilis. It is characterized by small, irregular pupils that do not respond to light but do respond to accommodation. A useful mnemonic for remembering this syndrome is Accommodation Reflex Present (ARP) but Pupillary Reflex Absent (PRA).

The ARP can be caused by various factors, including diabetes mellitus and syphilis. It is important to note that the presence of an ARP may indicate underlying neurological or systemic disease and should prompt further evaluation and management. Proper diagnosis and treatment of the underlying condition can help prevent further complications and improve patient outcomes.

A lower motor neurone facial palsy can be caused by parotid pathology.

After exiting the stylomastoid foramen, the facial nerve passes through the parotid gland and divides into five branches: temporal, zygomatic, buccal, marginal mandibular, and cervical. If there is any pathology within the parotid gland, it can lead to a lower motor neurone facial palsy. Additionally, surgery to the parotid gland can also result in this complication.

Facial Nerve Palsy: Causes and Path

Facial nerve palsy is a condition that affects the facial nerve, which supplies the muscles of facial expression, digastric muscle, and glandular structures. It can be caused by various factors, including sarcoidosis, Guillain-Barre syndrome, Lyme disease, acoustic neuromas, and Bell’s palsy. Bilateral facial nerve palsy is less common and can be caused by the same factors as unilateral palsy, but it can also be a result of neurofibromatosis type 2.

The facial nerve has two paths: the subarachnoid path and the facial canal path. The subarachnoid path originates from the pons and passes through the petrous temporal bone into the internal auditory meatus with the vestibulocochlear nerve. The facial canal path passes superior to the vestibule of the inner ear and contains the geniculate ganglion at the medial aspect of the middle ear. It has three branches: the greater petrosal nerve, the nerve to stapedius, and the chorda tympani. The facial nerve then passes through the stylomastoid foramen and gives rise to the posterior auricular nerve and a branch to the posterior belly of the digastric and stylohyoid muscle.

It is important to differentiate between lower motor neuron and upper motor neuron lesions in facial nerve palsy. An upper motor neuron lesion spares the upper face, while a lower motor neuron lesion affects all facial muscles. Multiple sclerosis and diabetes mellitus can also cause an upper motor neuron palsy. Understanding the causes and path of facial nerve palsy can aid in its diagnosis and treatment.

Cholestasis can be caused by sulphonylureas.

Understanding Drug-Induced Liver Disease

Drug-induced liver disease is a condition that occurs when certain medications or drugs cause damage to the liver. This condition is generally divided into three categories: hepatocellular, cholestatic, or mixed. However, there is often overlap between these categories, as some drugs can cause a range of changes to the liver.

Hepatocellular drug-induced liver disease is characterized by damage to the liver cells. Some of the drugs that tend to cause this type of damage include paracetamol, sodium valproate, phenytoin, MAOIs, halothane, anti-tuberculosis medications, statins, alcohol, amiodarone, methyldopa, and nitrofurantoin.

Cholestatic drug-induced liver disease, on the other hand, is characterized by a reduction in bile flow from the liver. Some of the drugs that tend to cause this type of damage include the combined oral contraceptive pill, antibiotics such as flucloxacillin, co-amoxiclav, and erythromycin, anabolic steroids, testosterones, phenothiazines such as chlorpromazine and prochlorperazine, sulphonylureas, fibrates, and rare reported causes such as nifedipine. Methotrexate, methyldopa, and amiodarone can cause both hepatocellular and cholestatic damage.

It is important to note that drug-induced liver disease can be a serious condition and can lead to liver cirrhosis if left untreated. Therefore, it is important to be aware of the potential risks associated with certain medications and to seek medical attention if any symptoms of liver damage occur.

The diagnosis can be inferred as a result of the short incubation period and intense vomiting.

Gastroenteritis can occur either at home or while traveling, known as travelers’ diarrhea. This condition is characterized by at least three loose to watery stools in 24 hours, accompanied by abdominal cramps, fever, nausea, vomiting, or blood in the stool. The most common cause of travelers’ diarrhea is Escherichia coli. Acute food poisoning is another pattern of illness that results in sudden onset of nausea, vomiting, and diarrhea after ingesting a toxin. Staphylococcus aureus, Bacillus cereus, or Clostridium perfringens are typically responsible for acute food poisoning.

There are several types of infections that can cause gastroenteritis, each with its own typical presentation. Escherichia coli is common among travelers and causes watery stools, abdominal cramps, and nausea. Giardiasis results in prolonged, non-bloody diarrhea, while cholera causes profuse, watery diarrhea and severe dehydration leading to weight loss. Shigella causes bloody diarrhea, vomiting, and abdominal pain, while Staphylococcus aureus results in severe vomiting with a short incubation period. Campylobacter typically starts with a flu-like prodrome and progresses to crampy abdominal pains, fever, and diarrhea, which may be bloody and mimic appendicitis. Bacillus cereus can cause two types of illness, vomiting within six hours, typically due to rice, or diarrheal illness occurring after six hours. Amoebiasis has a gradual onset of bloody diarrhea, abdominal pain, and tenderness that may last for several weeks.

The incubation period for gastroenteritis varies depending on the type of infection. Staphylococcus aureus and Bacillus cereus have an incubation period of 1-6 hours, while Salmonella and Escherichia coli have an incubation period of 12-48 hours. Shigella and Campylobacter have an incubation period of 48-72 hours, while Giardiasis and Amoebiasis have an incubation period of more than seven days.

When an abdominal wound reopens after surgery, it is called wound dehiscence. This can happen for various reasons, including infection, poor surgical technique, and malnutrition. As a junior doctor, it is important to know how to manage this emergency situation. The initial steps involve administering broad-spectrum antibiotics intravenously, covering the wound with sterile gauze soaked in sterile saline to prevent the abdominal contents from drying out, and arranging for the patient to undergo wound repair in the operating theatre. It is not advisable to attempt to close the wound on the ward, as this can be unsafe and increase the risk of infection or bowel injury. A nasogastric tube is not necessary, and simply redressing the wound without moist gauze can lead to fluid loss from the abdominal contents. It is also not necessary to arrange a CT scan, as the problem is evident and requires immediate management. While antibiotics and surgery are necessary, leaving the wound open and uncovered can lead to fluid loss and infection.

Abdominal wound dehiscence is a serious issue that surgeons who perform abdominal surgery frequently encounter. It occurs when all layers of an abdominal mass closure fail, resulting in the protrusion of the viscera externally. This condition is associated with a 30% mortality rate and can be classified as either superficial or complete, depending on the extent of the wound failure.

Several factors increase the risk of abdominal wound dehiscence, including malnutrition, vitamin deficiencies, jaundice, steroid use, major wound contamination (such as faecal peritonitis), and poor surgical technique. To prevent this condition, the preferred method is the mass closure technique, also known as the Jenkins Rule.

When sudden full dehiscence occurs, the wound should be covered with saline impregnated gauze, and the patient should receive IV broad-spectrum antibiotics, analgesia, and IV fluids. Arrangements should also be made for a return to the operating theatre.