Introduction to Haematology Part 3 - Myelodysplasia

Question 1

What are Myelodysplastic Syndromes?

Answer 1

Characteristically…
Mutated stem cell produces a clone of abnormal cells which then replace normal haemopoiesis; these cells typically die before leaving the marrow.

Question 2

Presentation of MDS

Age, Cause, Manifestation, Outcome Predictor.

Answer 2

Middle aged and elderly.
Can be a complication of chemo/radiotherapy.
Varied manifestation:
Chronic anaemia with survival for several years.
Aggressive disease terminating in Acute Myeloid Leukaemia.
(Outcome predicted by IPSS-R)

Question 3

Lab features of MDS and symptoms of thus.

Answer 3

Anaemia - fatigue & dyspnoea.
Neutropenia - infection.
Thrombocytopenia - bruising and bleeding.
Cellular bone marrow.

Question 4

Subtypes of MDS (3)

Answer 4

Refractory Anaemia - a decrease in the number of circulating red blood cells.
Refractory Anaemia with excess blasts - as above, high risk of progression to AML.
MDS 5Q syndrome.

Question 5

MDS 5q syndrome

Answer 5

Deletion of 5q (could be a missing chromosome...).
Refractive anaemia
Refractive neutropenia
Refractive thrombocytopenia.
Treated specifically by lenalidomide.

Question 6

Therapy for MDS
Supportive (3)
Active (4).

Answer 6

Supportive
Red blood cell transfusions (iron chelation for iron overload).
EPO
Platelet transfusions.

Active - 
Lenalidomide for 5q syndrome. 
Azacytidine - a methyl transferase inhibitor. 
Immunosuppression.
Chemotherapy and Bone Marrow Transplant.