guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
Abnormal lipid profile was associated with glucose
intolerance and was observed in 40% of patients with
hyperglycemia or insulin resistance. Of those with
diabetes, 75% were overweight or obese. FA adults who
had diabetes were overweight or obese compared with
those without these metabolic abnormalities. Metabolic
syndrome (overweight/obesity, dyslipidemia, and
insulin resistance) was diagnosed in 21% of the adults
with FA, while 12 of 24 children tested had at least one
metabolic abnormality: four with insulin resistance; one
with diabetes; and seven with dyslipidemia.
Cortisol Sufficiency
Cortisol sufficiency should be evaluated in young FA
children who have poor growth and who require major
surgery because of the possibility of central hypothalamic
dysfunction, even in the absence of a detectible
midline central nervous system defect. 3,15 If cortisol and
ACTH adequacy have not been assessed, hydrocortisone
stress dosing (50 to 100 mg/m 2 intravenous or
intramuscular) should be provided for major surgical
procedures.
Most FA patients have had normal circadian cortisol
levels and normal responses to ACTH administration
testing.
Multiple Hormonal Deficiencies
If multiple hormonal deficiencies are found and hypothalamic
or other central causes are suspected, a brain
MRI should be obtained with emphasis on the pituitaryhypothalamic
area.