Pancytopenia Flashcards
What is pancytopenia?
A deficiency in blood cells of all lineages (RBC, platelets, neutrophils)
Generally excludes lymphocytes
Pancytopenia is caused by reduced production or increased destruction of cells. True/False?
True
List causes of reduced production of all blood cells
BONE MARROW FAILURE
Inherited
Acquired (primary)
Acquired (secondary)
Fanconi’s anaemia is an inherited marrow failure syndrome. What is the defect?
Failure to repair DNA damage
When is Fanconi’s anaemia usually diagnosed?
Childhood
List clinical signs of Fanconi’s anaemia
Short stature Skin pigment abnormality (Cafe au Lait patches) Hypogenitalia Endocrinopathies Organ defects (GI, cardiac, renal) Skeletal deformities
What haematological abnormalities are present in Fanconi’s anaemia?
Macrocytosis –> thrombocytopaenia –> neutropaenia
What are patients with Fanconi’s anaemia at risk of developing?
Leukaemia
List the main acquired primary bone marrow failures that result in pancytopenia
Aplastic anaemia
Myelodysplasia
Acute leukaemia
What happens in aplastic anaemia?
Autoimmune T cell attack against haemopoietic stem cells, damaging myeloid cells
What are the histological features of anaplastic anaemia?
Absence of haemopoeitic cells
Fat and fibrosis (white tisse)
List histological features of myelodysplastic syndrome
Dysplasia causing production of bizarre cells
Hypercellular marrow
Increased apoptosis of progenitor and mature cells
What is the pathogenesis of myelodysplasia?
Acquired DNA mutations in haematopoietic stem cells leading to ineffective haemopoeisis causing disordered development of blood cells
What condition does myelodysplasia have the potential to evolve into?
Acute myeloid leukaemia
How does an acute leukaemia cause pancytopaenia?
Proliferation of abnormal blasts from stem cells leads to failure of differentiation of normal blood cells
Hijacking of the HSC niche and marrow environment
List the main causes of secondary bone marrow failure
Drugs (chemotherapy, chloramphenicol) B12/folate deficiency Infiltration Infection (viral, HIV) Storage diseases
List conditions causing increased destruction of blood cells
Hypersplenism (sequestration)
Sepsis
Immune
What cell process within the spleen is overworking in hypersplenism?
Cords contain macrophages that detect, retain and eliminate unwanted, foreign or damaged material, including cells
List some causes of hypersplenism
Splenic congestion (heart failure, portal hypertension)
Rheumatoid arthritis
Felty’s syndrome
Splenic lymphoma
List clinical features of pancytopenia (think anaemia, neutropenia and thrombocytopenia)
Fatigue Breathlessness Infection Bleeding Purpura, rash
List investigations for pancytopenia
Family history
Blood count and film
Guided tests (LFTs, folate/B12, virology, antibodies)
Cytogenetics
Bone marrow examination (aspirate, trephine biopsy)
Outline supportive treatment for pancytopenia
Blood transfusion (red cells, platelets, neutrophils) Prophylactic antibiotics (Gram negative cover)
In treatment of neutropenic fever, antibiotics should be given promptly without waiting on results. True/ False?
True
Outline treatment for pancytopenia caused by primary marrow disorder
Chemotherapy in malignancy
Bone marrow transplant in congenital causes
Immunosuppression in aplastic anaemia
