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ERROR: type should be string, got "https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTYwNDAxLXRyZWF0bWVudA==\nFanconi Anemia Treatment & Management\nAuthor: Jeffrey M Lipton, MD, PhD; Chief Editor: Jennifer Reikes Willert, MD more...\nSections Fanconi Anemia\nCBC Count, Chromosome Breakage Test, and Flow Cytometry\nAdditional Studies\nHematopoietic Stem Cell Transplantation and Androgen Therapy\nActivity Restriction, Management of Complications, and Monitoring\nAndrogenic agents\nAntifibrinolytic agents\nHematopoietic growth factors\nTreatment is recommended for significant cytopenias, such as hemoglobin less than 8 g/dL, platelets fewer than 30,000/µL, or neutrophils fewer than 500/µL. Patients should be referred to centers with experience in the care of patients with Fanconi anemia as new information is likely to change the treatment approach.\nRelated transplant donors must be proven not to have Fanconi anemia in order for a transplantation to succeed.\nGo to Pediatric Chronic Anemia, Anemia of Prematurity, Donath-Landsteiner Hemolytic Anemia, Pediatric Acute Anemia, and Pediatric Megaloblastic Anemia for complete information on these topics.\nPatients with specific birth defects or medical problems should be referred to the appropriate consultants (eg, hand surgeon, cardiologist, dermatologist, endocrinologist, gastroenterologist, geneticist).\nSupportive care for patients with symptomatic Fanconi anemia includes transfusions of packed RBCs that have been leukodepleted (and are not from family members, to avoid sensitization in case of a future transplantation). Symptomatic thrombocytopenia can be treated with similarly treated platelets; single-donor platelets are preferred to reduce the frequency of antibody formation. Symptomatic neutropenia usually responds to granulocyte colony-stimulating factor (G-CSF). In the past, some clinicians advocated corticosteroids, to delay growth plate closure in patients treated with androgens and to improve vascular integrity and reduce bleeding.\nTransfusions may be given as inpatient or outpatient treatment.\nHematopoietic stem cell transplantation (bone marrow, cord blood, or peripheral blood stem cells) may cure aplastic anemia and prevent myelodysplastic syndrome or leukemia. [15, 16, 17] It should be considered for those who have an HLA-matched sibling donor (survival rate is >80%).\nThe survival rate after transplantation from alternative donors is improving, depending on the completeness of the HLA-matching.\nThis procedure had been reserved for patients with leukemia or myelodysplasia and did not have HLA-matched related donors and for patients either unable to tolerate or refractory to standard medical treatment; this practice is changing as new, less toxic conditioning regimens and more precise HLA typing are developed and as the size of the donor pool increases. [18]\nIn any case, transplants must take place at institutions with experience in the treatment of patients with Fanconi anemia. Hematopoietic stem cell transplantation is currently an inpatient procedure.\nA study by MacMillan et al reported that alternative donor hematopoietic cell transplantation had a high success rate in patients with Fanconi anemia who did not have a history of opportunistic infections or transfusions and who underwent conditioning with single fraction total body irradiation 300 cGy, cyclophosphamide, fludarabine, and antithymocyte globulin. Survival probability in these patients was 94% at 5 years, according to the investigators. The study, which involved 130 patients, also found that adding fludarabine to conditioning caused three-fold enhancement of hematopoietic cell engraftment. [19]\nA study by Wang et al suggested that in patients with Fanconi anemia, the 1-year overall survival rate following unrelated-donor hematopoietic stem cell transplantation is poor in those with clonal or complete copy gains in the q arm of chromosome 3 or with abnormalities in three or more chromosomes. [20]\nAndrogen therapy\nAlthough the only therapy that can cure the pancytopenia is stem cell transplantation, androgens, to which approximately 50-75% of patients respond, are used for those in whom transplantation is not an option.\nHand surgery and splinting may be indicated for thumb and radial anomalies. Hand surgery should be performed early in life to ensure maximal function. Congenital heart defects may require surgery. GI anomalies, such as tracheoesophageal fistulas and imperforate anus, are also treated surgically.\nCancer surgery should be performed by experienced surgeons in consultation with hematologists and oncologists with experience in the management of Fanconi anemia.\nPatients with thrombocytopenia should avoid trauma, such as that resulting from contact sports, and should use helmets and padding. Those with anemia should participate in strenuous activities only under supervision and only as tolerated. Those with severe neutropenia need to avoid exposure to people with active infections.\nInpatient care of Fanconi anemia may be needed for complications of bone marrow failure (eg, bleeding, infection).\nHospitalization may be needed for treatment of other complications (eg, leukemia, tumors).\nBlood counts are recommended at 3-month intervals or more often as needed. Transfusions of red cells or platelets can be given to outpatients. Annual or more frequent bone marrow examinations can be outpatient procedures.\nCarrier screening can be offered as part of reproductive counseling for groups in which a founder effect and a carrier rate of more than 1 per 100 population are recognized. In utero prenatal diagnosis is available, and preimplantation genetic diagnosis may be possible.\nIn families in which the mutation has been identified in a proband or through carrier screening, in vitro fertilization and preimplantation genetic diagnosis may be offered.\nIn families with an affected proband, cord blood may be saved for future use as a source of hematopoietic stem cells at the birth of a sibling. In vitro fertilization and preimplantation genetic diagnosis can be used to identify a fetus that is an HLA-match and does not have Fanconi anemia.\nShimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010 May. 24(3):101-22. [Medline]. [Full Text].\nKatzenellenbogen RA, Carter JJ, Stern JE, et al. Skin and mucosal human papillomavirus seroprevalence in persons with fanconi anemia. Clin Vaccine Immunol. 2015 Apr. 22 (4):413-20. [Medline].\nAlter BP. Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol. 2014 Sep-Dec. 27 (3-4):214-21. [Medline]. [Full Text].\nAlter BP, Kupfer G. Fanconi anemia. Pagon RA, Bird TD, Dolan CR, et al, eds. Gene Reviews. Seattle, Wash: University of Washington; 2013.\nRosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003 Feb 1. 101(3):822-6. [Medline].\nRosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. 2008 Apr. 93(4):511-7. [Medline].\nTipping AJ, Pearson T, Morgan NV, 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. 2001 May 8. 98(10):5734-9. [Medline]. [Full Text].\nCallén E, Casado JA, Tischkowitz MD, et al. A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood. 2005 Mar 1. 105(5):1946-9. [Medline].\nVerlander 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. 1995 Dec 1. 86(11):4034-8. [Medline].\nRosenberg 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. 2005 Jan 1. 105(1):67-73. [Medline].\nSauter SL, Wells SI, Zhang X, et al. Oral human papillomavirus is common in individuals with Fanconi anemia. Cancer Epidemiol Biomarkers Prev. 2015 May. 24 (5):864-72. [Medline].\nSathyanarayana V, Lee B, Wright NB, et al. Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management. Pediatr Nephrol. 2018 Apr 12. [Medline].\nAlter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. 2007 Jan. 44(1):1-9. [Medline]. [Full Text].\nAlter BP, Rosenberg PS. VACTERL-H Association and Fanconi Anemia. Mol Syndromol. 2013 Feb. 4(1-2):87-93. [Medline]. [Full Text].\nDalle JH. HSCT for Fanconi anemia in children: factors that influence early and late results. Bone Marrow Transplant. 2008 Oct. 42 Suppl 2:S51-3. [Medline].\nPasquini R, Carreras J, Pasquini MC, et al. HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens. Biol Blood Marrow Transplant. 2008 Oct. 14(10):1141-7. [Medline]. [Full Text].\nMitchell R, Wagner JE, Hirsch B, DeFor TE, Zierhut H, MacMillan ML. Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia. Br J Haematol. 2014 Feb. 164 (3):384-95. [Medline]. [Full Text].\nSmetsers SE, Smiers FJ, Bresters D, Sonnevelt MC, Bierings MB. Four decades of stem cell transplantation for Fanconi anaemia in the Netherlands. Br J Haematol. 2016 Sep. 174 (6):952-61. [Medline].\nMacMillan ML, DeFor TE, Young JA, et al. Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood. 2015 Jun 11. 125 (24):3798-804. [Medline].\nWang Y, Zhou W, Alter BP, et al. Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia. Biol Blood Marrow Transplant. 2018 Jun 4. [Medline].\nA 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.)\nThe 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.)\nCafé 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.)\nThumbs 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.)\nJeffrey 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\nJeffrey M Lipton, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, Children's Oncology Group, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research\nBlanche 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\nBlanche 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, Society for Pediatric Research\nSteven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland\nSteven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology\nJennifer Reikes Willert, MD Associate Clinical Professor, Department of Pediatrics, Division of Pediatric Hematology/Oncology, Section of Stem Cell Transplantation, Stanford University Medical Center, Lucile Packard Children's Hospital\nJennifer Reikes Willert, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society for Blood and Marrow Transplantation, Children's Oncology Group, American Society of Pediatric Hematology/Oncology\nJ Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital\nJ Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology\nThe 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.\nencoded search term (Fanconi Anemia) and Fanconi Anemia\nAcute Anemia\nChronic Anemia\nAnemia and Thrombocytopenia in Pregnancy\nPediatric Chronic Anemia\nSickle Cell Anemia\nAnemia in Elderly Persons\nTreatment of Anemia in Patients With Renal Disease Reviewed\nRBC Transfusion and Cardiac Surgery: Be Strict and Restrict?\nFirst Worldwide Survey of Hematopoietic Stem Cell Transplantation\nHair Disorders: Finding the Root of the Problem\nAccording to Oncologist/Hematologists\n'Surgery Is Never Elegant When Women Are in the OR'\nModerate Intake of Red Meat Tied to Higher Colorectal Cancer Risk\nPoor Diet Linked to 80,000 Cancer Cases in the United States\nVenous Thromboembolism Clinical Practice Guidelines (2019)\nAfter a Patient Death, Top Cancer Center Issues Corrective Plan\nDiseases & Conditions Anemia of Chronic Disease and Renal Failure\nDiseases & Conditions Acute Anemia\nDiseases & Conditions Chronic Anemia\nDiseases & Conditions Pediatric Chronic Anemia"