Fanconi Anemia Differential Diagnoses

Updated: Jul 08, 2022
  • Author: Jeffrey M Lipton, MD, PhD; Chief Editor: Emmanuel C Besa, MD  more...
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Diagnostic Considerations

Patients with Fanconi anemia with characteristic birth defects (eg, radial ray anomalies, poor growth, genitourinary abnormalities) are often treated by various medical specialists during infancy. The diagnosis of Fanconi anemia must first be considered and can only be established if specific tests are ordered.

Failure to diagnose aplastic anemia or leukemia may lead to delays in treatment. The diagnosis of Fanconi anemia must be made to avoid the inappropriate use of immunosuppressive therapy for aplastic anemia, the use of toxic levels of chemotherapy or radiotherapy in leukemia or solid tumors, or toxic types of preparation for stem cell transplantation.

Patients who have tumors that are characteristic of Fanconi anemia but who present without the usual risk factors for those tumors need to be screened for Fanconi anemia (eg, head and neck cancer in a 20-year-old woman who does not smoke or drink).

Mild forms of Fanconi anemia may be missed, placing future pregnancies in that family at risk for Fanconi anemia. Possible probands with characteristic birth defects, undiagnosed cytopenias, or macrocytosis should be evaluated for Fanconi anemia.

Differentials to consider in the diagnosis of Fanconi anemia, aside from those in the next section, include the following conditions:

  • Acquired aplastic anemia

  • Acute myeloid leukemia

  • Bloom syndrome

  • Diamond-Blackfan anemia

  • Dubowitz syndrome

  • Rothmund-Thomson syndrome

  • Seckel syndrome

  • VACTERL association

  • Werner syndrome

  • Immune pancytopenias

  • In utero viral infections

Teratogens should also be considered in the diagnosis.

Go to Pediatric Chronic Anemia, Anemia of Prematurity, Donath-Landsteiner Hemolytic Anemia, Pediatric Acute Anemia, and Pediatric Megaloblastic Anemia for complete information on these topics.

Differential Diagnoses