More MRCP Revision

Acute Intermittent Porphyria - Does not typically result in skin manifestations but presents typically in a young woman admitted to hospital with severe abdominal pain, bilious vomiting and postural hypotension. AIP occurs due to the absence of porphobilinogen (PBG) deaminase and the combined oral contraceptive pill can precipitate an attack. Porphyria Cutanea Tarda on the other hand presents with a blistering skin rash on sun exposure, typically precipitated by alcohol.

Marfans Syndrome - This condition follows an autosomal dominant mode of inheritance and is caused by mutations in the fibrillin gene on chromosome 15. The diagnosis is made on clinical grounds. Major diagnostic criteria includes an early diastolic murmur, indicating aortic valve incompetence, likely to be secondary to aortic root dilatation requiring annual cardiology follow-up. Upwards lens dislocation (ectopia lentis) may be seen and minor criteria for diagnosis include arachnodactyly, minor valve prolapse and joint hypermobility.

Familial Hypocalciuric Hypercalcaemia - Is caused by a mutation of the calcium-receptor sensing gene leading to reduced calcium excretion and mild to moderate hypercalcaemia. Renal stones frequently occur in this condition and acute pancreatitis is rare. It is recommended that the patient maintains adequate hydration to reduce their risk of renal stones.

Sclerosing Cholangitis - Occurs classically in a patient with an inflammatory bowel disease. There is inflammation and fibrosis of the bile ducts with multiple areas of narrowing throughout the biliary system. The patient may be asymptomatic or may present with jaundice, pruritis and intermittent abdominal pain. There is a strong association with inflammatory bowel disease and men are more commonly affected than women.

Hodgkin's Lymphoma - The classic presentation is in a young woman presenting with weight loss and lymphadenopathy. Raised eosinophils in the full blood count are a strong clue towards the diagnosis and lymph node biopsy is necessary to confirm the diagnosis. Prognosis is related to clinical stage, bulk of tumour and histopathology. Presence of the 'Reed-Sternberg' Cell (with giant 'owls eye' nucleoli) are useful diagnostically.

IgA Nephropathy - This would typically occur in a young man who has repeated episodes of painless macroscopic haematuria following a upper respiratory tract infections. On a renal biopsy there will typically be diffuse mesangial proliferation and the condition results in chronic kidney disease in approximately 30% of cases. Heavy proteinuria, raised blood pressure and renal impairment are indicators of a poorer prognosis.