Bone Marrow Failure Syndromes

Question 1

What is the treatment for aplastic anemia?

Answer 1

(1) Supportive transfusion with irradiated RBCS.
(2) Immunosuppression (anti-thymocyte globulin)
(3) HSCT

Question 2

What are the causes of aplastic anemia?

Answer 2

(1) Primary - Idiopathic, autoimmune, or pregnancy related. Inherited (Fanconi’s anemia)
(2) Secondary - Drugs (PTU, NSAIDs, carbamazepine, phenytoin), Infection (CMV, EBV), radiation

Question 3

What is the cause of paroxysmal nocturnal hemoglobinuria?

Answer 3

Mutation in a PIGA gene, which produces an anchoring glycolipid that attaches that attaches certain proteins to the cell wall of RBCs, which results in a lack of attachment of a complement inhibitor (CD59) that prevents RBC destruction through complement mediated hemolysis.

Question 4

What are the features of PNH?

Answer 4

(1) Bone marrow failure
(2) Chronic intravascular hemolysis
(3) Thrombosis (venous & arterial), hepatic is common

Question 5

How is PNH diagnosed?

Answer 5

(1) Peripheral Blood Flow Cytometry

Also need to get a BM biopsy to investigate for other disorders, such as Aplastic Anemia

Question 6

What is the treatment for aplastic anemia?

Answer 6

Anticoagulation for thrombotic events (no prophylaxis)

Eculizumab (compliment inhibitor) - not curative