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Aplastic anaemia and other causes of bone marrow failure 

Aplastic anaemia and other causes of bone marrow failure
Chapter:
Aplastic anaemia and other causes of bone marrow failure
Author(s):

Judith C.W. Marsh

and E.C. Gordon-Smith

DOI:
10.1093/med/9780199204854.003.220311
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date: 08 December 2019

Bone marrow failure implies a deficiency of one or more circulating blood cell lineages caused by primary proliferative failure of haemopoietic progenitor cells in the marrow. Several conditions both acquired and inherited result in marrow failure. Differential distinction is important for planning treatment.

Aplastic anaemia

Aetiology—this may be (1) idiosyncratic—the commonest type (70–80% of cases); most often of unknown cause (‘idiopathic’), but sometimes a drug or chemical or a virus infection is implicated; believed to have an autoimmune basis; (2) inevitable—e.g. after treatment with cytotoxic drugs or radiation; (3) immune—e.g. associated with systemic lupus erythematosus (SLE); (4) malignant—e.g. in association with childhood acute lymphoblastic leukaemia; (5) inherited—e.g. Fanconi anaemia, dyskeratosis congenita, Shwachman–Diamond syndrome.

Clinical features—the commonest presenting manifestations are those of (1) anaemia, (2) bleeding—skin or mucosal haemorrhage, or visual disturbance due to retinal haemorrhage, and (less commonly) (3) infection—particularly sore throat or failure of minor infections to clear.

Diagnosis—this requires at least two of the following: (1) haemoglobin less than 10 g/dl, (2) platelet count less than 50 × 109/litre, and (3) neutrophil count less than 1.5 × 109/litre. The bone marrow is hypocellular with prominent fat spaces and variable amounts of residual haemopoietic cells.

Treatment and prognosis—aside from supportive care, this depends on severity of disease: (1) Nonsevere—depends on requirement for red cell and/or platelet transfusion: (a) no requirement—observe; (b) required—first-line treatment is with antithymocyte globulin (ATG) and ciclosporin. (2) Severe—depends on patient’s age and whether they have an HLA-identical sibling: (a) aged under 40 years with HLA-identical sibling—bone marrow transplant; (b) others—first-line treatment is with ATG and ciclosporin. For patients who lack an HLA-identical bone marrow donor, the outlook is poor.

Pure red cell aplasia

In this condition there is defective maturation of red cell precursors, with failure to produce reticulocytes and hence mature red cells. Causes include most commonly (1) acquired, idiopathic—usually immune in origin; associations include autoimmune diseases (e.g. SLE), thymoma, drugs (e.g. phenytoin, erythropoietin), lymphoproliferative disorders, parvovirus B19 infection; and rarely (2) congenital—e.g. Diamond–Blackfan, and (3) transient erythroblastopenia of childhood, which often follows a viral illness.

Clinical presentation is with features of severe anaemia. Aside from supportive care, treatment of acquired, idiopathic disease depends on the associated cause, e.g. stopping any relevant drug, intravenous immunoglobulin for parvovirus-induced disease. For other patients first-line treatment is with prednisolone, with refractory disease being treated with other immunosuppressive agents, e.g. ciclosporin, ATG.

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