Progeria

Progeria also known as Hutchinson Gilford Progeria Syndrome {HGPS}, a rare genetic disorder is characterized by premature aging {1}. Males outnumber females with a ratio of 1.5:1, and racial susceptibility strongly favors Caucasians but as the inheritance is due to sporadic dominant mutations, the cases must be occurring across the geographies and ethnic groups {2}. The clinical features are very characteristic and consist of craniofacial disproportion, micrognathia, prominent scalp veins, scalp alopecia, prominent eyes, wrinkled skin, protruding ears, nail dystrophy, midfacial cyanosis, growth retardation and a sculpted nose and are similar in almost all the cases. The large bald head and a small jaw give them an extremely aged appearance. There is growth retardation, loss of hair, and subcutaneous fat, restricted joint mobility, prominent eyes, and severe premature atherosclerosis {3,4}. By the age 1 or 2 years severe growth retardation is usually observed. The rate of aging in the affected individual is accelerated to seven times that of normal. The median age of death is 12 years {life span ranging 7-27 years}. However, there have been isolated reports of survival till the age of 45years. A majority of these individuals die due to cardiovascular complications like myocardial infarction or congestive heart failure. Other causes of death include malnutrition, emaciation, convulsions and accidental head trauma {4}.

References:
1. Brown WT. Progeria: a human-disease model of accelerated aging. Am J Clin Nutr. 1992, 55 {6 Suppl}: 1222S-1224S.
2. Fukuchi K, Katsuya T, Sugimoto K, Kuremura M, Kim HD, Li L, Ogihara T. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet. 2004, 41: e67

3. Shinton RA, Sarkar PK: Hutchinson-Gilford progeria syndrome. Postgrad Med J. 2001, 77: 312-317
4. MAKOUS N, FRIEDMAN S, YAKOVAC W, MARIS EP. Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis. Am Heart J. 1962, 64: 334-346.

E-published: September 2009, Vol 6 Issue 9 Art # 52