guidebook. - Fanconi Anemia Research Fund

20
Fanconi Anemia: Guidelines for Diagnosis and Management
the eardrums and/or middle ear bones. If the patient
has hearing loss or structural abnormalities, follow-up
should include:
▫▫
• At diagnosis:
▫▫
An assessment from an audiologist to
determine whether an amplification system
will be useful (for children as young
as four months).
▫▫
Possible surgical intervention to improve
hearing.
▫▫
Contact with the school district regarding
early intervention services provided
by the Individuals with Disabilities Education
Act (from birth through age 21).
Speech and language therapy, if needed.
• Medical management after diagnosis:
▫▫
If an FA patient receives potentially ototoxic
drugs, such as intravenous antibiotics,
iron-chelating agents, and chemotherapy
drugs used during hematopoietic
stem cell transplant, the patient’s auditory
function should be monitored with
serial audiograms.
Gastrointestinal and Hepatic Issues
Patients with gastrointestinal or hepatic issues should
be seen by a pediatric gastroenterologist.
Gastrointestinal issues: Approximately 7% of FA
patients have gastrointestinal tract abnormalities and
many have gastrointestinal symptoms, such as poor oral
intake, nausea, abdominal pain, and/or diarrhea. These
problems may affect nutrition in FA patients. The physician
should ask the patient and family about gastrointestinal
symptoms during routine clinic visits, since it