RESPONSE TO NUTRITIONAL AND GROWTH-HORMONE TREATMENT IN PROGERIA

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition with a n unknown molecular defect. Patients with HGP progressively develop fa ilure to thrive (FTT), alopecia, loss of subcutaneous fat, scleroderma , stiffening of various joints, and severe atherosclerosis. The median life span is 13 years, and the main cause of death is cardiovascular complications. There are few reports of endocrine and metabolic studie s because of the rarity of this condition, and the response to long-te rm growth hormone (GH) treatment has not been described. We report the results of endocrine and metabolic studies performed to investigate t he etiology of growth failure in five patients with HGP. Additionally, the response to nutritional therapy (NT) and GH treatment in three of these patients is presented. Our results suggest that elevated GH lev els are characteristic of this disease and that an elevated basal meta bolic rate (BMR) could be the cause of the FTT seen in HGP. Nonaggress ive NT slightly improved weight gain and growth velocity (GV). Combine d NT and GH treatment in three patients improved the GV, increased the levels of growth factors, and paradoxically resulted in decreased BMR s. However, the response to these therapies decreased over time and di d not seem to prevent the progression of atherosclerotic disease. Copy right (C) 1997 by W.B. Saunders Company.