guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
With the recent increased success of hematopoietic stem
cell transplantation in curing the hematological complications
of Fanconi anemia, the long-term effects of
FA are now of greater importance. 8,11 With the prospect
of a significantly extended lifespan, we must prepare to
treat the previously considered “secondary problems”
of non-hematological conditions and to address quality
of life issues, such as adult height. The endocrinologist
should be involved in initiating and supervising
endocrine therapy. Treatment regimens must always
be specific for the individual subject. Individuals with
FA should be followed for the most common endocrine
abnormalities, including growth failure, insulin insufficiency/hyperinsulinemia/glucose
intolerance, and
hypothyroidism.
Attention to endocrine issues may permit the individual
with FA to have the energy and stamina to better enjoy
his or her life. Overall treatment philosophy is to ensure
an optimal quality of life.
References
1. Wajnrajch MP, Gertner JM, Huma Z, et al. Evaluation of
growth and hormonal status in patients referred to the International
Fanconi Anemia Registry. Pediatrics 2001; 107: 744-754.
2. Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormalities
in patients with Fanconi anemia. Journal of Clinical
Endocrinology and Metabolism 2007; 92: 2624-2631.
3. Sherafat-Kazemzadeh R, Mehta SN, Care MM, Kim MO, Williams
DA, Rose SR. Small pituitary size in children with Fanconi
anemia. Pediatric Blood and Cancer 2007; 49: 166-170.
4. Elder D, D’Alessio DA, Eyal O, et al. Abnormalities in glucose
tolerance are common in children with Fanconi anemia and associated
with impaired insulin secretion. Pediatric Blood and Cancer
2008; 51: 256-260.