Introduction Type 2 familial hyperlipidemia, also known as familial hypercholesterolemia (FH), is a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol. This condition significantly increases the risk of cardiovascular diseases, such as coronary artery disease and heart attacks, even at a young age. Genetics and Inheritance Familial hypercholesterolemia is primarily inherited in […]
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Important Points about Diphtheria Topic Details Cause Corynebacterium diphtheriae Transmission Respiratory droplets, direct contact, contaminated objects Incubation Period 2 to 5 days Symptoms Sore throat, fever, pseudomembrane in throat, swollen neck glands, difficulty swallowing, hoarseness, nasal discharge Complications Myocarditis, peripheral neuropathy, kidney damage, respiratory failure Diagnosis Clinical symptoms, throat swabs, cultures, toxin assays Treatment Diphtheria
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Overview Refsum disease is a rare genetic disorder that impacts the metabolism of phytanic acid, a type of fat found in certain foods. This metabolic defect leads to the accumulation of phytanic acid in the body, which can cause a variety of symptoms, primarily affecting the nervous system, eyes, skin, and bones. What is Refsum
Takayasu arteritis, often referred to as “pulseless disease,” is a rare, systemic inflammatory condition affecting the large and medium-sized arteries. It predominantly occurs in young Asian women and can lead to severe vascular complications if left untreated. Introduction What is Takayasu Arteritis? Takayasu arteritis (TA) is a systemic inflammatory disease that causes damage to the
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Case Presentation A 35-year-old woman presents with a history of recurrent miscarriages, unexplained deep vein thrombosis (DVT), and a recent stroke. She reports frequent headaches and a persistent rash on her lower legs. Laboratory tests reveal the presence of antiphospholipid antibodies. Overview Antiphospholipid Antibody Syndrome (APLA), also known as Antiphospholipid Syndrome (APS), is an autoimmune
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Thrombotic thrombocytopenia(TTP) is a rare but serious blood disorder characterized by the formation of clots in small blood vessels throughout the body. This condition can lead to various complications, including organ damage and severe bleeding due to the low platelet count. What is Thrombotic Thrombocytopenia? Thrombotic thrombocytopenia, often referred to as thrombotic thrombocytopenic purpura (TTP),
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Sickle cell crisis, a severe complication of sickle cell disease, demands immediate medical attention. Clinical Case Presentation of Sickle Cell Crisis a 10-year-old child presented with sudden, severe pain in the legs and arms, accompanied by fever and fatigue. This was preceded by multiple episodes of vomitting and loose stools. The child has a known
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Pheochromocytoma; Overview Pheochromocytoma is a rare but potentially life-threatening tumor that arises from the adrenal glands. These tumors can lead to severe health complications if not diagnosed and treated promptly. What is Pheochromocytoma? It is a type of tumor that develops in the adrenal glands, which are small glands located above each kidney. These tumors
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Acute paralysis by hypokalemia; Case presentation: A 58 year old male presented with complaints of 10-12 episodes of vomitting. His was vitally stable. Signs of dehydration were present. He was admitted, and was later complaining of inability to move his legs and was not able to lift his neck up. Detail examination findings: Systemic Examination:
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Fibromuscular Dysplasia (FMD); Overview: Fibromuscular dysplasia (FMD) is a rare but significant vascular disorder affecting arteries, particularly those leading to the kidneys, brain, and other vital organs. This condition involves abnormal cell development in the walls of medium-sized arteries, leading to narrowing, aneurysms, and other complications. What is Fibromuscular Dysplasia(FMD)? Fibromuscular dysplasia is a non-inflammatory,
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