Fanconi Anemia Differential Diagnoses

  • Author: Jeffrey M Lipton, MD, PhD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Jul 26, 2011
 
 

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

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Jeffrey M Lipton, MD, PhD  Professor of Pediatrics and Molecular Medicine, Hofstra North Shore-Long Island Jewish School of Medicine; Professor, Elmezzi Graduate School of Molecular Medicine; Director, Patient-Oriented Research, Feinstein Institute for Medical Research; Director, Pediatric Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York

Jeffrey M Lipton, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Blanche P Alter, MD, MPH, FAAP  Senior Clinician, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute; Adjunct Faculty, Medical Genetics Fellowship Program, National Human Genome Research Institute; Visiting Professor of Pediatrics, part time, Johns Hopkins School of Medicine; Adjunct Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Blanche P Alter, MD, MPH, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Society for Clinical Investigation, American Society of Hematology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

J Martin Johnston, MD  Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Pediatric Hematology/Oncology, Backus Children's Hospital; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD  Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgments

The authors acknowledge the support and encouragement of their patients, their families, and referring physicians. This research was supported (in part) by the Intramural Research Program of the NIH and the National Cancer Institute.

References

  1. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. May 2010;24(3):101-22. [Medline].

  2. Rosenberg PS, Tamary H, Alter BP. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. Am J Med Genet A. Aug 2011;155(8):1877-83. [Medline]. [Full Text].

  3. Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C, et al. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci U S A. May 8 2001;98(10):5734-9. [Medline]. [Full Text].

  4. Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, et al. A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood. Mar 1 2005;105(5):1946-9. [Medline].

  5. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood. Dec 1 1995;86(11):4034-8. [Medline].

  6. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. Apr 2008;93(4):511-7. [Medline].

  7. Rosenberg PS, Socié G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood. Jan 1 2005;105(1):67-73. [Medline].

  8. Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. Jan 2007;44(1):1-9. [Medline]. [Full Text].

  9. Dalle JH. HSCT for Fanconi anemia in children: factors that influence early and late results. Bone Marrow Transplant. Oct 2008;42 Suppl 2:S51-3. [Medline].

  10. Pasquini R, Carreras J, Pasquini MC, Camitta BM, Fasth AL, Hale GA, et al. HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens. Biol Blood Marrow Transplant. Oct 2008;14(10):1141-7. [Medline]. [Full Text].

 
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A 3-year-old patient with Fanconi anemia. Note the multiple birth defects, including short stature, microcephaly, microphthalmia, epicanthal folds, dangling thumbs, site of ureteral reimplantation, congenital dislocated hips, and rocker bottom feet. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
The 3-year-old patient with Fanconi anemia seen in the previous image. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
Café au lait spot and hypopigmented area in a 3-year-old patient with Fanconi anemia. Same patient as in the previous images. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
Thumbs attached by threads on a 3-year-old patient with Fanconi anemia (same patient as in the previous images). (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
 
 
 
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