Rare Genetic Diseases: Hutchinson-Gilford Syndrome

Hutchinson-Gilford syndrome, also known as progeria, affects 1 in 20,000,000 individuals. In September 2020 there were 179 known cases in the world.

Progeria belongs to the group of diseases with premature aging called progeroid syndromes. The patients usually live to the age of mid-teens to early twenties. The leading causes of death are severe cardiovascular symptoms that develop by puberty.

The first symptoms develop during the first few months of the patient’s life. These include limited growth, full-body alopecia (hair loss), and localized scleroderma-like skin condition. The individuals affected by progeria can be characterized by a small face with shallow recessed jaws, wrinkled skin, and a large head to the body with prominent eyes and noticeable scalp veins.

As the patients age, they may develop kidney failure, loss of eyesight, and various cardiovascular problems. Furthermore, they have a small, fragile body which is uncommon among the non-elderly population. The musculoskeletal degeneration causes loss of body fat and muscle.

Hutchinson-Gilford syndrome is an autosomal dominant genetic disorder caused by a single mutation on the LMNA gene. The LMNA gene encodes for the Lamin A protein. This protein is necessary for holding the center (nucleus) of the cell together. The mutation on the gene causes the production of an abnormal Lamin A protein which is known as progerin. Progerin weakens the structure of the cell nucleus, thus making it difficult for the cells to divide. The genetic mutation is rarely passed down to the next generation. The mutation happens sporadically.

Currently, there is no cure for the disorder, however, regular monitoring for heart and blood vessel disease may help with managing the condition.