Hutchinson–Gilford–Progeria syndrome

Hutchinson–Gilford Progeria Syndrome (HGPS) is a rare, fatal, genetic condition characterized by an appearance of accelerated aging in children. It is named after the two British doctors, Jonathan Hutchinson and Hastings Gilford, who first described it in the late 19th century.

Etiology

HGPS is caused by a mutation in the LMNA gene, which encodes the lamin A protein. This protein provides structural support to the nucleus of the cell. In HGPS, a mutated form of lamin A, known as progerin, accumulates in the nucleus, leading to progressive damage and premature cell death.

Clinical Features

Children with HGPS typically appear normal at birth. However, within a year, they begin to display signs of accelerated aging, such as growth retardation, loss of body fat and hair, aged-looking skin, stiffness of joints, and atherosclerosis. Despite their aged appearance, these children have normal cognitive development.

Diagnosis

Diagnosis of HGPS is based on the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying the mutation in the LMNA gene.

Treatment

There is currently no cure for HGPS. Treatment is supportive and aims to improve the quality of life and slow the progression of the disease. This may include low-dose aspirin to prevent heart attacks and strokes, physical and occupational therapy to improve joint mobility, and nutritional support to maintain body weight.

Prognosis

The average life expectancy for individuals with HGPS is about 13 years, with most dying from heart disease or stroke. However, with advances in research and supportive care, some individuals have lived into their late teens and early twenties.

Research

Research into HGPS is ongoing, with the aim of understanding the disease process and developing effective treatments. This research may also provide insights into the normal aging process and age-related diseases, such as heart disease and Alzheimer's disease.

NIH genetic and rare disease info

• NIH info on Hutchinson–Gilford–Progeria syndrome

Hutchinson–Gilford–Progeria syndrome is a rare disease.

Hutchinson–Gilford–Progeria syndrome Resources
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