Of the following options, which one is the best diagnostic test for paroxysmal nocturnal haemoglobinuria?
Correct Answer D: Flow cytometry of blood to detect low levels of CD59 and CD55 has now replaced Ham's test as the gold standard investigation in paroxysmal nocturnal haemoglobinuria.
Paroxysmal nocturnal haemoglobinuria: Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired disorder leading to haemolysis (mainly intravascular) of haematological cells. It is thought to be caused by increased sensitivity of cell membranes to complement (see below) due to a lack of glycoprotein glycosyl-phosphatidylinositol (GPI). Patients are more prone to venous thrombosis.
Pathophysiology:
Features:
Diagnosis:
Management:
A 25-year-old woman with primary antiphospholipid syndrome is reviewed. She has just had a booking ultrasound at 11 weeks gestation which confirms a viable pregnancy. This is her first pregnancy and she is otherwise fit and well.
Which one of the following is the recommend treatment?
Correct Answer D: Antiphospholipid syndrome in pregnancy: aspirin + LMWH.
The ultrasound at 11 weeks gestation would show a fetal heart if the pregnancy was viable. This patient should therefore be taking both aspirin and low-molecular weight heparin.
Antiphospholipid syndrome: pregnancy: Antiphospholipid syndrome is an acquired disorder characterized by a predisposition to both venous and arterial thromboses, recurrent fetal loss and thrombocytopenia. It may occur as a primary disorder or secondary to other conditions, most commonly systemic lupus erythematosus (SLE).
In pregnancy the following complications may occur:
A 61-year-old woman is investigated for hoarseness and dyspnoea which has got progressively worse over the past month. In the past she has been diagnosed with toxic multinodular goitre which was successfully treated with radioiodine. On examination she has a firm, asymmetrical swelling of the thyroid gland. Laryngoscopy demonstrates a right vocal cord paralysis and apparent external compression of the trachea.
What is the most likely diagnosis?
Correct Answer E: Anaplastic thyroid cancer - aggressive, difficult to treat and often causes pressure symptoms.
Thyroid cancer:
Features of hyperthyroidism or hypothyroidism are not commonly seen in patients with thyroid malignancies as they rarely secrete thyroid hormones.
Types/Percentage:
Management of papillary and follicular cancer:
A 48-year-old man is diagnosed with acute myeloid leukaemia and cytogenics are performed.
Which one of the following is associated most with a poor prognosis?
Correct Answer A: Acute myeloid leukaemia - poor prognosis: deletion of chromosome 5 or 7.
Acute myeloid leukaemia: Acute myeloid leukaemia is the more common form of acute leukaemia in adults. It may occur as a primary disease or following a secondary transformation of a myeloproliferative disorder.
Poor prognostic features:
Acute promyelocytic leukaemia M3:
Classification - French-American-British (FAB):
A 52-year-old is found to have chronic myeloid leukaemia following investigation for splenomegaly.
Which one of the following best describes the function of the BCR-ABL fusion protein?
Correct Answer D: Chronic myeloid leukaemia - imatinib = tyrosine kinase inhibitor.
Chronic myeloid leukaemia:
The Philadelphia chromosome is present in more than 95% of patients with chronic myeloid leukaemia (CML). It is due to a translocation between the long arm of chromosome 9 and 22 - t(9:22)(q34; q11). This results in part of the ABL proto-oncogene from chromosome 9 being fused with the BCR gene from chromosome 22. The resulting BCR-ABL gene codes for a fusion protein which has tyrosine kinase activity in excess of normal.
Presentation (40-50 years):
Imatinib:
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