Ataxia-Telangiectasia Treatment & Management
- Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD more...
Although no specific treatment is available, several features of ataxia-telangiectasia are accessible to active therapy. This applies especially to infections.
The life span of patients with ataxia-telangiectasia clearly has been prolonged by antibiotic treatment. Prevention of infections by regular injection of immunoglobulins is considered useful. Fetal thymus implants and stimulants of the immunologic system have given inconclusive results.
Treatment of neurologic manifestations is disappointing. Beta-adrenergic blockers may improve fine motor coordination in some cases.
The use and doses of radiation therapy and chemotherapy are controversial. Some reports indicate that standard-dose chemotherapy should be given to each patient with ataxia-telangiectasia with lymphoid malignancies,[36, 44] whereas others advise reduced doses, especially for alkylating agents. According to some references, bleomycin, actinomycin D, and cyclophosphamide should be avoided.
Regular surveillance of heterozygotes for cancer should be part of family management. ATM heterozygosity was reported to be a risk factor for breast and lung cancers.[29, 39, 46] ATM carriers are also suggested to be more vulnerable at X-radiation, as in many cases breast cancer occurrence was preceded by x-ray exposure.
Desferrioxamine has been shown to increase genomic stability of ataxia-telangiectasia cells and, therefore, may present a promising tool in ataxia-telangiectasia treatment.
Concerning the role of increased oxidative stress in ataxia-telangiectasia pathophysiology, several clinical trials based on antioxidants in ataxia-telangiectasia patients have been constructed and are currently underway.
Provide genetic counseling to all patients with ataxia-telangiectasia and their family members.
Consult a neurologist, a cardiologist, and an endocrinologist as determined by the patient's history and physical examination.
Rehabilitation and adequate educative support are always necessary. Physical therapy is useful in maintaining good muscular strength, preventing limb contractures, and learning techniques of falling to avoid injury. Occupational therapy helps to develop functional adaptions in the activities of daily living. Speech therapy may be useful in improving articulation and in increasing voice volume.
Daily participation (to tolerance) in a structured physical fitness program, which may include swimming, use of a special bicycle, and graduated weight lifting, is useful in maintaining good muscular strength and preventing limb contractures and, thus, may postpone confinement to a wheelchair.
Early death is frequently due to pulmonary disease, but malignancies are also a common cause. The incidence of malignancy is 60-300 times higher than in healthy persons, and, on autopsy report, 49% of cases had malignant tumors. The most common tumors are lymphoreticular malignancies, especially non-Hodgkin lymphomas, but other kinds of tumors also occur. Malignancies are also more common in obligate heterozygotes than in the general population.
Patients with ataxia-telangiectasia should undergo regular examinations for early cancer detection.
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