Management options: SCIDS with adenosine deaminase deficiency

• Published in: Annals of allergy Vol. 72; no. 5; p. 395
• Main Authors: Hilman, B C, Sorensen, R U
• Format: Journal Article
• Language: English
• Published: United States 01.05.1994
• Subjects: Adenosine Deaminase - deficiency; Bone Marrow Transplantation; Enzymes - therapeutic use; Genetic Therapy; Humans; Severe Combined Immunodeficiency - complications; Severe Combined Immunodeficiency - therapy; Stem Cell Transplantation
• ISSN: 0003-4738

Of the currently available options for the treatment of ADA deficiency, the treatment of choice remains transplantation of bone marrow from an HLA identical donor. When an HLA-identical donor is not available, haploidentical BMT or enzyme replacement needs to be considered and evaluated on an individual basis. Haploidentical BMT may be potentially curative, but this form of therapy is not without risks, especially in severely ill patients or in patients requiring cytoablation. The ability to utilize PEG-ADA even in ill patients, is certainly an advantage over haploidentical BMT. Polyethylene glycol-adenosine deaminase enzyme replacement usually entails a shorter time of hospitalization, but is very expensive for long-term treatment. The expense will increase as the patient requires higher doses of the enzyme replacement with increasing weight. Although PEG-ADA enzyme replacement therapy has been shown to be effective without significant risks to patients with SCIDS, there is increasing concern that this form of therapy may be jeopardized due to expense for long-term treatment in the current era of managed care and health care reforms. The use of PEG-ADA enzyme replacement is associated with decreased morbidity and mortality when compared with haploidentical BMT transplantation. There have been only two deaths among the 29 patients treated with PEG-ADA. In contrast, the 2-year survival for BMT in ADA deficient patients is quite variable ranging from 0% to 66%.