pancytopenia

Question 1

examples of pancytopenia?

Answer 1

aplastic anaemia
drug induced

Question 2

what are causes of drug-induced pancytopenia?

Answer 2

cytotoxics
antibiotics: trimethoprim, chloramphenicol
anti-rheumatoid: gold, penicillamine
carbimazole
anti-epileptics: carbamazepine
sulphonylureas: tolbutamide

Question 3

what is aplastic anaemia?

Answer 3

characterised by bone marrow failure, leading to a significant reduction in the production of all types of blood cells, resulting in pancytopenia. This condition can be congenital (inherited) or acquired and is often caused by immune-mediated destruction of blood cell precursors. It results in a hypocellular marrow (and no abnormal cells suggestive of an alternative e.g. leukaemia).

Question 4

how do you diagnose aplastic anaemia?

Answer 4

Diagnosis is made by at least 2 of the following:
Anaemia: haemoglobin <10 g/dL
Thrombocytopenia: platelets <50 x 10^9/L
Neutropenia: absolute neutrophil count <1.5 x 10^8/L

Question 5

what are acquired causes of aplastic anaemia?

Answer 5

Immune-Mediated: Most acquired cases result from an autoimmune response against bone marrow stem cells. It can also be caused by paroxysmal nocturnal haemoglobinuria.
Environmental Factors: Exposure to toxins, such as benzene, or certain medications like chloramphenicol or phenytoin or NSAIDs.
Viral Infections: Viruses like Epstein-Barr, hepatitis and parvovirus B19 may trigger aplastic anaemia.
Pregnancy: A rare but reversible form, known as pregnancy-associated aplastic anaemia, can occur.

Question 6

what are the inherited causes of aplastic anaemia?

Answer 6

Fanconi Anaemia: An an autosomal recessive hereditary disorder associated with mutations in various genes involved in DNA repair.
Dyskeratosis Congenita: An inherited disorder linked to telomere maintenance defects.
Shwachman-Diamond Syndrome: An X-linked condition affecting the bone marrow’s ability to produce blood cells.

Question 7

what are features of aplastic anaemia?

Answer 7

fatigue and pallor (caused by anaemia), infection (caused by leukopenia), and easy bruising/bleeding (caused by thrombocytopenia).

Question 8

features of fanconi’s anaemia?

Answer 8

pigmentation abnormalities, hearing defects, renal abnormalities, genital abnormalities, solid tumours, and short stature.

Question 9

features of dyskeratosis congenita?

Answer 9

nail malformations, oral leukoplakia, and a reticulated skin rash.

Question 10

differentials?

Answer 10

myelodysplastic syndromes
leukaemia
hyperspelnism
infections

Question 11

what ix are done?

Answer 11

FBC - pancytopenia
bone marrow aspiration + biopsy - bone marrow hypo cellular
cytogenetic testing
Haematopoietic stem cell studies
immunological assays

Question 12

what is the mx of aplastic anaemia?

Answer 12

Supportive Care: Managing infections and bleeding complications.
Hematopoietic Stem Cell Transplant
Immunosuppressive Therapy: Using medications like antithymocyte globulin (ATG) and cyclosporine and chemotherapy to suppress the immune response.
Blood Transfusions: To manage symptoms related to low blood cell counts.