guidebook. - Fanconi Anemia Research Fund

156
Fanconi Anemia: Guidelines for Diagnosis and Management
• Vitamin D recommendations: 400 units daily in
a young child; 800 to 1,000 units in an adolescent
or adult.
More aggressive intervention with calcium and
vitamin D replacement is indicated if BMD is low for
height.
Bisphosphonates (oral or intravenous) have been used
safely in children with Osteogenesis Imperfecta and in
growing children with osteopenia and fractures. Treatment
with bisphosphonates may be considered if the
child has sustained two or more low-impact fractures
and a DXA result is lower than -1.5 SD (after adjustment
for height age). Oral bisphosphonates may worsen
esophageal reflux. Treatment for any hormone deficiency,
especially for pubertal delay, can be beneficial
for bone mineralization.
Adults with Fanconi Anemia
Adults with FA must be monitored for a variety of
endocrinopathies, including hypogonadism, thyroid
function, diabetes mellitus, hyperlipidemia, reduced
fertility, and bone mineral density.
Endocrine function
Endocrine function in FA adults has not been well
described. Each of the publications of endocrine function
in FA patients has included some adults
(Table 4). The total number of adults with FA who have
had endocrine results reported has been small. 1,2,4,5 Early
intervention and therapy may improve quality of life.
Treatment of endocrine issues in adults with FA should
be monitored by endocrinologists who care for adults,
with attention to thyroid status, glucose tolerance,
lipid abnormality, gonadal function, and bone mineral
density.