Fanconi anemia is an autosomal recessive inherited disorder of bone marrow failure syndrome characterized by decreased production of all types of blood cell. The underlying problem appear to be defective DNA repair
Diagnostic Criteria
- Growth retardation and congenital defect of the skeleton.
- Abnormal skin pigmentation (café-au-lait spots).
- Any of 8 gene mutations FANCA through FANCL are associated.
- The majority of the patients have mutations of FANCA, C or G.
- Marrow hypocellularity and pancytopenia may appear gradually after age 5yrs.
Clinical Features
- Fatigue
- Pallor, dyspnoe on exertion,
- Bleeding
- Infection as a consequence of cytopenia
- Growth retardation result in short stature especially dysplastic radii and thumbs
- Microcephaly and mental retardation may be a feature
- Hypogonadism
The median survival of untreated severe aplastic anaemia is 3-6 months (~20% survive longer than 1 year
Non-Pharmacological Treatment
Supportive
- Blood transfusion (irradiated, leucodepleted) when Hb<7
- Platelet transfusion if bleeding (using single donor)
- Antibiotic esp broad spectrum to prevent infections
- Netropenic measure possible isolation of the patient, use of mask
- Allogeneic stem cell transplantation (indicated in patients younger than 45yrs)
Pharmacological Treatment
Immunosuppressive Therapy
S: Anti-thymocyte globulin (ATG) 40mg/kg/daily IV 4–10 days
OR
10–20 mg/kg IV every day for 8–14 days, then every other day PRN up to total of 21 doses
OR
S: Cyclosporine 3–7mg/kg daily 4–6 month
OR
S: Methylprednisolone 5–10mg/kg for 3–14 days
OR
S: Cyclophosphamide 45mg/kg per day for 4 doses
OR
S: Danazol 5mg/kg/day for 6 months
Give supportive therapy and refer to higher health facility with adequate expertise and facilities patient to tertiary hospital for diagnosis and treatment.
