Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Fanconi Anemia

System/ConcernEvaluationComment
Growth Growth assessment; exam by endocrinologistAdditional studies (growth hormone levels, bone age radiographs) as recommended by endocrinologist
Musculoskeletal Clinical assessment for limb anomalies, hip dislocation, neck/spine anomalies & scoliosisReferral to orthopedic surgeon as indicated
Eyes Exam by ophthalmologist
Genitourinary Ultrasound exam of kidneys & urinary tractReferral to nephrologist, gynecologist &/or urologist as indicated
Endocrine Exam by endocrinologist; thyroid function tests; brain MRI for pituitary abnormalitiesAdditional studies (glucose tolerance testing, lipids, pituitary & gonadal function testing) as recommended by endocrinologist
Hearing Formal hearing evalReferral to otolaryngologist as indicated
Cardiac/
Vascular 		Echocardiogram; brain MRI & angiography for moyamoya diseaseReferral to cardiologist as indicated
Gastrointestinal
  • Urgent eval w/gastroenterologist & surgery for those w/obstructive GI malformations (e.g., esophageal atresia, duodenal atresia, or imperforate or bifurcated anus) &/or tracheoesophageal fistula, intestinal malrotation, or annular pancreas
  • Nutrition/feeding eval as needed
Referral to gastroenterologist, dietician, & surgeon as indicated
Development Developmental assessment (esp important for toddlers & school-age children)Referral to neuropsychologist or developmental/behavioral pediatrician as indicated
Hematology/
Oncology 		Eval by hematologist incl complete blood count, fetal hemoglobin, full blood typing, blood chemistries (assessing liver, kidney, & iron status), & bone marrow aspirate for cell morphology, FISH & cytogenetics, & biopsy for cellularityThe bone marrow of those w/FA can exhibit signs of dysplasia, e.g., nuclear/cytoplasmic dys-synchrony, hypo-lobulated megakaryocytes, & bi-nucleated erythroid cells. These features must be distinguished from true forms of MDS by a hematopathologist experienced in eval of MDS in those w/FA.
HLA typing of the affected person, sibs, & parents for consideration of hematopoietic stem cell transplantation
Genetic
counseling 		By genetics professionals 1To obtain a pedigree & inform affected persons & families re nature, MOI, & implications of FA to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

FA = Fanconi anemia; GI = gastrointestinal; HLA = human leukocyte antigen; MOI = mode of inheritance; MDS = myelodysplastic syndrome

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Fanconi Anemia

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