Which one of the following haematological malignancies is most commonly associated with the t(11;14) translocation?
Correct Answer D:
Haematological malignancies: genetics:
Below is a brief summary of the common translocations associated with haematological malignancies: t(9;22) - Philadelphia chromosome:
t(15;17):
t(8;14):
t(11;14):
Which one of the following therapeutic options is least recognized in the treatment of aplastic anaemia?
Correct Answer A:
Aplastic anaemia: management: Supportive:
A 15-year-old girl is referred to haematology. She started having periods three years ago which have always been heavy and prolonged. Unfortunately the menorrhagia has responded poorly to trials of tranexamic acid and the combined oral contraceptive pill. Blood tests show the following:
What is the most likely diagnosis?
Correct Answer E: Von Willebrand's disease is the most likely diagnosis as it is the most common inherited bleeding disorder. The mildy elevated APTT is consistent with this diagnosis. The mild anaemia is consistent with the long history of menorrhagia.
Von Willebrand's disease: Von Willebrand's disease is the most common inherited bleeding disorder. The majority of cases are inherited in an autosomal dominant fashion* and characteristically behaves like a platelet disorder i.e. epistaxis and menorrhagia are common whilst haemoarthroses and muscle haematomas are rare.
Role of von Willebrand factor:
Types:
Investigation:
Management:
*Type 3 von Willebrand's disease (most severe form) is inherited as an autosomal recessive trait. Around 80% of patients have type 1 disease.
Which one of the following is least recognized as a treatment modality in idiopathic thrombocytopenic purpura?
ITP: investigation and management: Idiopathic thrombocytopenic purpura (ITP) is an immune mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb-IIIa or Ib complex.
Investigations:
A 50-year-old man with a history of ulcerative colitis comes for review. Six years ago he had an ileostomy formed which has been functioning well until now. Unfortunately he is currently suffering significant pain around the stoma site. On examination a deep erythematous ulcer is noted with a ragged edge. The surrounding skin is erythematous and swollen.
Correct Answer C: Pyoderma gangrenosum is associated with inflammatory bowel disease and may be seen around the stoma site.
Treatment is usually with immunosuppressants as surgery may worsen the problem A differential diagnosis would be malignancy and hence lesions should be referred for specialist opinion to evaluate the need for a biopsy. Irritant contact dermatitis is common but would not be expected to cause such a deep ulcer.
Pyoderma gangrenosum: Features:
Causes*:
*Note whilst pyoderma gangrenosum can occur in diabetes mellitus it is rare and is generally not included in a differential of potential causes.
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