Bone Marrow Failure Flashcards
What is Bone Marrow Failure?
When the bone marrow fails to produce sufficient healthy cells to meet the body’s needs
What is Cytopenia and what are the different types?
- Cytopenia is a reduction in the number of mature blood cells
- Anaemia => Reduction in RBCs
- Leukopenia => Low white cells
- Thrombocytopenia => Deficiency of platelets
=> Pancytopenia is a deficiency in all 3
What are the potential causes of Cytopenia?
- Reduced cell production
- Destruction or excess loss of cells
- Failure of appropriate utilisation
What are the clinical features of Leukopenia?
=> Presents as fever and infections in:
- Urine
- Chest
- Sinus
- Skin
- Mouth
What are clinical features of Thrombocytopenias?
- Easy bleeding and bruising
- Menorrhagia
- Epistaxis
- Petechiae
- Gum bleeding
What is the classification of Bone Marrow Failure?
=> Broadly categorised as:
- Inherited
- Acquired
=> Both Inherited and Acquired further classified as:
- Single lineage
- Pancytopenia
What are the different Inherited, single lineage disorders?
=> Diamond Black-Fan Anaemia
=> Leukopenia
=> Congenital Amegakaryocytic
=> Thromobocytopenia with absent radii
What are the different Inherited, Pancytopenic disorders?
=> Fanconi Anaemia
=> Dyskeratosis Congenital
=> Shwachman-Diamond Pearson
What is the main acquired, single lineage disorder?
- Pure red cell aplasia
What are the different Acquired, Pancytopenic disorders?
- Aplastic Anaemia
- Bone marrow infiltration
- Paroxysmal Nocturnal Haemoglobinuria
What is Aplastic Anaemia?
=> Defined by pancytopenia with:
- Hypocellular marrow
- No abnormal cells (no cancer cells).
=> At least 2 of the following must be present:
- Hb < 100g/L
- Platelets < 50 x 10^9/L
- Neutrophils < 1.5 x 10^9/L
Considered severe if the neutrophil count drops below 0.5 and VERY SEVERE if it drops below 0.2
What are the investigations in suspected Aplastic Anaemia?
- FBC
- Blood films
- Retics
- Viral studies
- LFTs
What are the possible DDx of Aplastic Anaemia and how are they excluded?
=> Paroxysmal Nocturnal Haemoglobinuria
- Rare development
=> Malignant Hypocellular Disease
- Do immunoblotting and cytogenetics to exclude
=> Late presentation of congenital forms
- Chromosomal breakage analysis to exclude
What are the causes of Aplastic Anaemia?
=> Idiopathic - most cases
=> Viral
- Hepatitis
- Parovirus
=> Predictable
- Radiation
- High dose chemotherapy
=> Drugs
- Cytotoxins
- Chloramphenicol
- Sulphonamides
- Phenytoin
- Gold
What is the management of Aplastic Anaemia?
=> Supprtive
- Blood products
- Antibiotics
- General advice
=> Immunosupression
- Ciclosporin. In acquired setting, aplastic anaemia occurs due to autoimmune destruction of stem cells. PARADOXICAL TREATMENT, IMMUNOSUPPRESSIVE MEDICATION USED, NOT STEROIDS
=> Growth factors - rarely used and not helpful
- GCSF
=> Haemopoetic Stem Cell Transplant
- 1st line management if patient < 40
