By ULY CLINIC

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Fanconianaemia

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It 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

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 Diagnostic Criteria

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• 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.  

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Clinical Features

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• 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 

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The median survival of untreated severe aplastic anaemia is 3-6 months (~20% survive longer than 1 year

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Non-Pharmacological Treatment

Supportive

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• 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)    

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Pharmacological Treatment

Immunosuppressive Therapy  

• 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  

• Cyclosporine 3–7mg/kg daily 4–6 month OR Methylprednisolone 5–10mg/kg for 3–14 days OR Cyclophosphamide 45mg/kg per day for 4 doses OR 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.

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Updated on, 27.10.2020

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References

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1. STG page number 10-12