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Chapter 2: Diagnostic Evaluation of FA 37 The relative risk of AML in FA patients compared to the general population is ~800-fold, and the median age in reported cases is 13 years, with a range from
38 Fanconi Anemia: Guidelines for Diagnosis and Management with excessive sensitivity to chemotherapy or radiotherapy or who are atypically young and lack the usual risk factors for their cancers. Patients with androgenresponsive or ATG/cyclosporine A-non-responsive “acquired” aplastic anemia might have FA. FA should also be considered in individuals with macrocytic red cells and/or increased levels of fetal hemoglobin (Hb F) who do not have a hemoglobinopathy; in males (and perhaps females) with unexplained infertility; and in young patients with liver tumors without the usual viral or alcohol risk factors. Table 2 outlines the hierarchy of indications for testing for FA, listing those in whom the FA work-up should definitely be done, as well as those in whom it should be highly considered. This table is not restrictive, but rather, is a guide. Table 2: Indications for Testing for Fanconi Anemia* Definite: • Sibling with FA • Aplastic anemia • Characteristic birth defects, particularly one or more of abnormal radii and/or thumbs; renal structural anomalies; microophthalmia; microcephaly; café au lait spots; features of VACTERL-H such as tracheo-esophageal fistula, imperforate anus, and others (see earlier listing). • Spontaneous chromosome breaks • Primary MDS (at a young age) • Primary AML (at a young age) • Unusual sensitivity to chemo- or radiotherapy • Cancer typical of FA at an atypical age, such as HNSCC
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Chapter 7 Endocrine Disorders in Fa
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Chapter 9 Matched Sibling Donor Hem
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Chapter 12 Novel Treatment Options
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Chapter 13 Head and Neck Squamous C
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Chapter 14 The Adult Fanconi Anemia
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