Fanconi Anemia Treatment & Management

Updated: Feb 10, 2016
  • Author: Jeffrey M Lipton, MD, PhD; Chief Editor: Jennifer Reikes Willert, MD  more...
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Treatment

Approach Considerations

Treatment 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.

Related transplant donors must be proven not to have Fanconi anemia in order for a transplantation to succeed.

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.

Consultations

Patients with specific birth defects or medical problems should be referred to the appropriate consultants (eg, hand surgeon, cardiologist, dermatologist, endocrinologist, gastroenterologist, geneticist).

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Supportive Care

Supportive 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.

Transfusions may be given as inpatient or outpatient treatment.

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Hematopoietic Stem Cell Transplantation and Androgen Therapy

Hematopoietic stem cell transplantation (bone marrow, cord blood, or peripheral blood stem cells) may cure aplastic anemia and prevent myelodysplastic syndrome or leukemia. [13, 14] It should be considered for those who have an HLA-matched sibling donor (survival rate is >80%).

The survival rate after transplantation from alternative donors is improving, depending on the completeness of the HLA-matching.

This 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.

In 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.

A 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. [15]

Androgen therapy

Although 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.

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Surgical Care

Hand 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.

Cancer surgery should be performed by experienced surgeons in consultation with hematologists and oncologists with experience in the management of Fanconi anemia.

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Activity Restriction, Management of Complications, and Monitoring

Patients 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.

Inpatient care of Fanconi anemia may be needed for complications of bone marrow failure (eg, bleeding, infection).

Hospitalization may be needed for treatment of other complications (eg, leukemia, tumors).

Blood 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.

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Prevention

Carrier 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.

In 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.

In 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.

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