What is Fanconi Anaemia?

Fanconi Anaemia (FA) is a bone marrow failure disorder with an increased risk of malignancy. It is autosomal recessive in the majority and X-linked in a small percentage of cases. Children with FA may have major or minor malformations. Though the original description was based on radial ray deformity, we now know that FA can be associated with malformation in any system. Over 90% of the children develop aplastic anaemia between the ages of 5 to 10 years. Others may present with acute myeloid leukemia (AML) or other malignancies. Diagnosis of FA is confirmed by induced chromosomal breakage test (diepoxybutane / mitomycin C test)

Purpose of early diagnosis

Though FA is a rare disorder, it is the most commonly inherited aplastic anaemia. Consanguinity in certain parts of South India and Tamil Nadu, Andhra Pradesh and Karnataka is high and hence a number of children have been identified with FA. In the last 15 years, over 143 children with FA have been identified and followed up. The only cure for FA at present is bone marrow transplantation (BMT). The next option would be the use of androgens or immunosuppressive agents, but the response is either poor or short lived in most cases.

The need for early diagnosis

• To identify the onset of complications (aplasia and malignancy)
  
  
• To take preventive measures to delay the onset of aplasia, if possible
  
  
• To plan elective surgery when haematologically stable
  
  
• To identify unaffected siblings
  
  
• To counsel the family
  
  
• To help in planning future pregnancies

When should FA be suspected?

• Children or young adults with aplastic anaemia or myelodysplasia
  
  
• Children with birth defects
  
  
• Patients in whom karyotype analysis reveals increased number of spontaneous breaks
  
  
• Patients who are unusually sensitive to Chemotherapy or Radiotherapy
  

Diagnostic clinical features of FA in Indian children Data from REFAIN

Clinical Features Mean age 7.6 yrs Consanguinity 64% Aplastic Anaemia 97 Hyper- pigmentation 96 Fanconi facies 65 Café au lait spots 78 Thenar hypoplasia 74 Small for date 63 Radial ray anomaly 56 Renal anomaly 29 Ear Anomaly/Impaired hearing 21 Hypo-pigmentation 15 Cardiac anomaly 13 Short stature (-2SD) 11 Microcephaly(-2SD) 13

 

What should a physician do when FA is suspected? Click Here to know what a physician should do when FA is suspected?