Pancytopenia Flashcards
What is pancytopenia?
Deficiency in all blood cell lineages - RBCs, WBC, platelets
What are the causes of pancytopenia?
Idiopathic aplastic anaemia Panconi anaemia Vit B12 and folate deficiency Drugs: chemotherapy, chloramphenicol, NSAIDs Infections: B19, TB, HIV Myelodysplastic syndromes Acute leukaemia Myeloma Hypersplenism
What is aplastic anaemia?
Anaemia due to marrow failure defined by pancytopenia and hypocellular bone marrow
In aplastic anaemia are abnormal cells found in the peripheral blood or bone marrow?
No
What is the pathophysiology of aplastic anaemia?
Reduction in the number of stem cells with a fault in those remaining or immune reaction against them resulting in them being unable to repopulate the bone marrow
Can progress to myelodysplasia, paroxysmal nocturnal haemoglobinuria or acute myeloid leukaemia
What are causes of aplastic anaemia?
Idiopathic aplastic anaemia
Fanconi anaemia
Chemicals - benzene, glue sniffing
Drugs - cytotoxic, chloramphenicol, sulphonamides, phenytoin, gold, NSAIDs
Infections - parvovirus (B19), hepatitis, EBV, HIV, TB
Radiation
What is the most common cause of aplastic anaemia
Idiopathic aplastic anaemia
What is idiopathic aplastic anaemia?
Autoimmune cause of bone marrow failure
What is Fanconi anaemia?
Inherited autosomal recessive cause of aplastic anaemia
What is the pathophysiology of Fanconi anaemia?
Failure to repair DNA crosslinks
Defective DNA repair in stem cells, predisposing to DNA fragility and mutations
What is the presentation of Fanconi anaemia?
Short stature Abnormal skin pigment Missing thumb, radius Hypogenitalia Endocrinopathies GI, cardiovascular, renal defects Reduced IQ
Which conditions does Fanconi anaemia have a much higher risk of?
Bone marrow failure
Acute myeloid leukaemia
What is the management for Fanconi anaemia?
Stem cell transplant
What do investigations show in aplastic anaemia?
Bloods - pancytopenia, absence of reticulocytes
Bone marrow trephine biopsy - hypo cellular marrow with increased fat spaces
What is myelodysplasia?
Dysplasia (disordered development) of the bone marrow
What is the pathophysiology of myelodysplasia?
Acquired DNA mutations in haemopoietic stem cells result in hypercellular bone marrow and ineffective haemopoiesis
This causes increased apoptosis of progenitor and mature cells
What are some management options for myelodysplasia?
Regular blood transfusions Immunosuppression Erythropoietin Chemotherapy Lenalidomide Allogenic SCT
How does acute leukaemia cause pancytopenia?
Proliferation of abnormal cells from leukaemia stem cells produces cells that fail to differentiate or mature into normal cells
What is hypersplenism?
Increased destruction of blood cells, exceeding bone marrow capacity
What are causes of hypersplenism?
Splenic congestion - Portal hypertension - Chronic liver disease Rheumatoid arthritis Splenic lymphoma
What are the clinical features of pancytopenia?
Anaemia - fatigue - shortness of breath - cardiovascular compromise Neutropenia - infections - increased severity and duration of infections Thrombocytopenia - bleeding - purpura - petechiae
What investigations can be done to determine the cause of pancytopenia?
FBC Blood film B12/folate, LFTs, virology, autoantibody tests Bone marrow examination Genetic tests
What are the hypo and hyper cellular causes of pancytopenia?
Hypocellular: - aplastic anaemia Hypercellular - myelodysplastic syndromes - B12/folate deficiency Hypersplenism
What are the options for supportive management of pancytopenia?
Red cell transfusions
Platelet syndromes
Antibiotic prophylaxis/treatment
Treat neutropenic fever promptly
What is the management for congenital causes of pancytopenia?
Bone marrow transplant
What is the management for idiopathic aplastic anaemia?
Immunosuppression
