Ataxia-Telangiectasia Treatment & Management

Updated: Jun 08, 2022
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

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, [45, 54] whereas others advise reduced doses, especially for alkylating agents. [55] 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. [34, 48, 56] 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. [56]

Desferrioxamine has been shown to increase genomic stability of ataxia-telangiectasia cells and, therefore, may present a promising tool in ataxia-telangiectasia treatment. [57]

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. [58]