Pancytopenia Flashcards
What is pancytopenia?
Deficiency of blood cells from all lineages (except lymphocytes)
What are the underlying mechanisms of pancytopenia?
Reduced production or increased destruction of blood cells
What is the most common cause of reduced production of blood cells?
Bone marrow failure = usually acquired (primary or secondary), rarely inherited
What features would suggest an inherited bone marrow failure?
Cancer predisposition, congenital abnormalities and impaired haemopoiesis
What is an example of an inherited bone marrow failure?
Fanconi’s anaemia = failure of interstrand cross links
What is the progression of blood abnormalities in Fanconi’s anaemia?
Macrocytosis - thrombocytopenia - pancytopenia
What are the features of Fanconi’s anaemia?
Short stature, cafe au-lait macules, hypogenitalia, endocrinopathy, GI defects, increased risk of aplasia and leukaemia
What characterises primary marrow failure?
Defects in stem cells
What are some causes of primary marrow failure?
Idiopathic anaplastic anaemia
Myelodysplastic syndrome
Acute leukaemia
What occurs in idiopathic anaplastic anaemia?
T cells attack haemopoietic stem cells = reduces number of blood cells produced
How does acute leukaemia cause reduced production of blood cells?
Abnormal leukaemic cells out-proliferate normal cells
What occurs in myelodysplastic syndrome?
Disordered development = hypercellualr anaemia, increased apoptosis of progenitor and mature cells
What can myelodysplastic syndrome progress to?
Acute myeloid leukaemia
What are some causes of secondary marrow failure?
Drugs, B12/folate deficiency, lymphoma and metastases, viral infection, storage disease
What is the main cause of increased cell destruction?
Hypersplenism = increased splenic pool and usually associated with splenomegaly
What are some causes of hypersplenism associated with splenomegaly?
Portal hypertension, rheumatoid arthritis, splenic lymphoma
What do the clinical features of pancytopenia reflect?
Lack of circulating blood cells and the underlying cause of the pancytopenia
What is the triad of abnormalities associated with pancytopenia?
Anaemia, neutropenia, thrombocytopenia
What are the clinical features of pancytopenia?
Anaemia = fatigue, SOB, CV compromise Neutropenic = infection (fungal, systemic bacterial) Thrombocytopenic = bleeding, purpura, petechiae
What are some tests used to establish the cause of pancytopenia?
History and clinical findings, FBC and blood film, B12/folate, LFTs, virology, autoantibody tests, bone marrow examination
What are some specialised tests done to investigate pancytopenia?
Chromosome fragility testing, NGS, WES
What are some causes of hypocellular marrow?
Idiopathic anaplastic anaemia, drugs
What are some causes of hypercellular marrow?
Myelodysplastic syndrome, B12/folate deficiency, hypersplenism
What are the supportive treatments for pancytopenia?
Replacement = red cell and platelet transfusion
Anti-biotic and fungal prophylaxis
Always treat neutropenic fever with antibiotics before getting culture results
How are primary bone marrow disorders treated?
Malignancy = chemotherapy
Congenital = bone marrow transplant
Aplastic anaemia = immunosuppression
How are secondary bone marrow disorders treated?
Treat viral infection
Stop causative drug
Replace B12/folate
How is hypersplenism managed?
Treat cause and consider splenectomy
