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Synonyms and Keywords: Fanconi anaemia; Fanconi hypoplastic anemia; Fanconi panmyelopathy; Fanconi pancytopenia; FA
The discovery of fanconi anemia is largely the work of Swiss pediatrician Guido Fanconi who observed various finding of fanconi anemia to be different then pernicious anemia and led to its discovery.
Physical Examination[edit | edit source]
- Congenital malformations are the most common presenting features of FA.
- Patients with FA usually present with hypo/hyperpigmentation, café-au-lait spots, short staure and thumb or other radial abnormalities.
- Vital Signs Usually normal sometime patients present with fever due to superimposed infection.
- Skin abnormalities in Fanconi anemia can include generalized hyperpigmentation on the trunk, neck, and intertriginous areas, the aforementioned café au lait spots, and hypopigmented areas. Delicate features can also be characteristic of patients.
The diagnosis of Fanconi anemia is not based on routine laboratory tests; it must be considered and tested for using chromosome breakage in blood or fibroblasts, or germline mutation analysis. Siblings who do not apparently have Fanconi anemia need to be screened for occult Fanconi anemia.
Any patient with single-lineage or multi-lineage cytopenias without known cause who also has one or more congenital malformations strongly associated with FA.
Laboratory findings consistent with the diagnosis of Fanconi Anemia include Pancytopenia, Chromosomal breakage test positive, and Flow cytometry shows arrest in G2/M phase.
Although non-specific, these are one of the best described features and include:
- radial ray anomalies: including absent thumb.
- triphalangeal thumb.
Perform a skeletal survey to identify all developmental defects involving bone. Keep in mind that radiation doses should be limited in patients with Fanconi anemia. Care should be taken to avoid unnecessary radiation in patients with a cancer predisposition.
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|Suspected clinical FA|
|Chromosome breakage test on peripheral film|
|Repeat Chromosome breakage test|
|Highly suspected FA||Not highly suspected FA|
|Chromosome breakage test on skin fibroblast|
|Consider other IBMFS|
|Diagnosis of FA|
|Genetic testing for Korean|
mutations FANCAexon 27 & 37
FANCGintron 3 & exon 8
|Other FA associated genes|