Myelodysplastic syndromes and Aplastic Anaemia Flashcards
What is a myelodysplastic syndrome?
An acquired haematopoeic stem cell disorder
Characterised by the development of a clone of marrow stem cells with abnormal maturation, resulting in
- functionally defective blood cells
- numerical reduction in blood cells
what are blood features of myelodyasplastic syndromes?
- Peiger-Huet (boiled neutrophils)
- Dysgranylopoesis of neutrophils (failure of granulation)
- Dyserythropoesis of RBC (blebbing)
- Dysplastic megacaryocytes (micro-megakaryocyte)
- Increased blast cells
What are ringed sideroblasts
Accumulation of iron granules around the nucleus of myeloid precursor
What are Auer rods diagnostic of?
ACUTE MYELOID LEUKAEMIA
What prognostic variables are important for MDS?
BM blasts (%) karyotype Hb Platelet Neutrophil
What are MDS causes of death?
1/3 from infection
1/3 from bleeding
1/3 from acute leukaemia
Which 2 treatments prolong life in MDS?
Allogenic stem cell transplant
Chemotherapy
Why are SC transplant/chemo often not appropriate for MDS patients
Because most patients are ELDERLY
What kind of supportive care is appropriate?
Blood products support
Antimicrobial therapy
Growth factors (EPO, G-CSF)
Which drugs can be given for MDS?
Immunosuppression
Azacytidine
Decitabine
Lenalidomide
What is the oral chemotherapy for MDS called?
Hydroxyurea= hydroxycarbamide
What are primary causes of BM failure?
*Fanconis
*Idiopathic aplastic anaemia
Diamond-Blackfan anaemia
Kostmann syndrome
What are secondary causes of BM failure?
Surgical sieve
Vascular: Haematological malignancies (e.g. leukaemia, lymphoma, myelofibrosis) Infection (parvovirus, viral hepatitis) AI Marrow infiltration Drugs, Radiation, Chemicals (benzene)
What kind of drugs can cause BM failure?
Cytotoxic drugs Phenylbuzatone, gold salts Antibiotics (chloramphenicol, sulphonamide) Thiazide diuretics Anti thyroid drug (Carbimazole)
What is the age incidence for aplastic anaemia?
BIMODAL
15-24
60+
What is the likely aetiology of aplastic anaemia
Idiopathic UNKNOWN
possibly Autoimmune
What is the clinical presentation of BM failure?
Anaemia
Thrombocytopoenia
Leukopoenia
What does a bone marrow slide look like in aplastic anaemia?
HYPOCELLULAR (few cells, mainly fat)
What are the Camitta Criteria for SEVERE aplastic anaemia?
2 out of 3 peripheral blood features:
- Reticulocytes <1%
- Neutrophils <0.5
- Platelets <20
What drugs can you use to promote marrow recovery in BM failure?
Oxymetholone
Thrombopoetin Receptor Antagonist
How is Fanconi Anaemia inherited?
Autosomal recessive.
OR
X linked
In how many children with FA do congenital abnormalities occur?
70%
What are abnormalities in children with FA?
Short stature Cafe au lait spots Short/non-existent thumbs Microcephaly/hydrocephaly Hypogonadism Developmental delay
What are common complications of FA?
Aplastic anaemia Leukaemia Liver disease Myelodysplasia Cancer
What is dyskeratosis congenita?
Inherited condition characterised by:
- marrow failure
- cancer predisposition
- somatic abnormalities
SCaM
What is triad of somatic abnormalities in dyskeratosis congenital?
Skin pigmentation
Nail dystrophy
leukoplakia
What occurs to telomeres in dystkeratosis congenital?
Their LENGTH is REDUCED
what criteria do you use for severe aplastic anaemia?
Camitta criteria
What features are required for camitta criteria?
2 of 3 on peripheral blood
- low reticulocytes
- low neutrophils
- low platelets
what is the overview of management for bone marrow failure?
supportive (blood/platelet transfusion, antibiotics, iron chelation therapy)
Promote marrow recovery (TPO receptor agonist)
Stem cell transplant
