A 71-year-old woman with no significant past medical history is investigated for lymphocytosis. She has recently lost 7kg in weight and complains of lethargy. The following blood results are obtained:
Four months previously her white cell count was 30.5 * 109/l.
What is the most appropriate management?
Correct Answer D: CLL - treatment: Fludarabine, Cyclophosphamide and Rituximab (FCR).
This patient has chronic lymphocytic leukaemia. The lymphocyte doubling time is less than 6 months, the patient has some evidence of marrow failure and also has systemic symptoms. She should therefore be treated and of the options given a combination of fludarabine, cyclophosphamide and rituximab (FCR) is the most appropriate treatment. Chlorambucil used to be the first-line treatment of choice but studies have shown it not to be as effective as FCR.
As with many haematological cancers such patients are often entered into randomised trials.
Chronic lymphocytic leukaemia: management:
Indications for treatment:
Management:
What is the lifetime risk of developing colorectal cancer in the United Kingdom?
Correct Answer C: Colorectal cancer is the third most common cancer in the UK, with approximately 30,000 new cases in England and Wales per year.
Colorectal cancer: screening:
Overview:
At colonoscopy, approximately:
Which one of the following is the most common inherited thrombophilia?
Correct Answer D: Activated protein C resistance (Factor V Leiden) is the most common inherited thrombophilia.
Activated protein C resistance is due a point mutation in the Factor V gene, encoding for the Leiden allele. Heterozygotes have a 5-fold risk of venous thrombosis whilst homozygotes have a 50-fold increased risk.
Von Willebrand's disease is the most common inherited bleeding disorder.
Thrombophilia: causes:
Inherited:
Acquired:
Each one of the following is associated with polycythaemia rubra vera, except:
Correct Answer C: Polycythaemia rubra vera is associated with a low ESR.
Polycythaemia rubra vera: features:
Polycythaemia rubra vera (PRV) is a myeloproliferative disorder caused by clonal proliferation of a marrow stem cell leading to an increase in red cell volume, often accompanied by overproduction of neutrophils and platelets.
It has recently been established that a mutation in JAK2 is present in approximately 95% of patients with PRV and this has resulted in significant changes to the diagnostic criteria. The incidence of PRV peaks in the sixth decade.
Features:
Following history and examination, the British Committee for Standards in Haematology (BCSH) recommend the following tests are performed:
If the JAK2 mutation is negative and there is no obvious secondary causes the BCSH suggest the following tests:
Other features that may be seen in PRV include a low ESR and a raised leukocyte alkaline phosphotase The diagnostic criteria for PRV have recently been updated by the BCSH. This replaces the previous PRV Study Group criteria.
JAK2-positive PRV - diagnosis requires both criteria to be present :
JAK2-negative PRV - diagnosis requires A1 + A2 + A3 + either another A or two B criteria:
A 4-year-old girl with sickle cell anaemia presents with abdominal pain. On examination she is noted to have splenomegaly and is clinically anaemic.
What is the most likely diagnosis?
Correct Answer C:
Sickle-cell crises:
Sickle cell anaemia is characterized by periods of good health with intervening crises.
Four main types of crises are recognized:
Thrombotic crises:
Sequestration crises:
Aplastic crises:
Haemolytic crises: