Progeria (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD

Overview

In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom, right) rather than the uniform shape typically found in healthy individuals (top, right)

Hutchinson-Gilford Progeria Syndrome (HGPS), was named after the doctors who first described it in England in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. It is a rare, fatal genetic condition characterized by a characteristic facial appearance and slow growth in children. They may suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke. Now a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process.

What are the symptoms of progeria?

Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following:

  • Prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears.
  • Bald, aged-looking skin, a loss of fat under the skin
  • Hair loss
  • Joint abnormalities

Also, they suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts,osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke.

Who is at highest risk?

Progeria is a very rare disease in the world. The cause is not clear. Researchers found that mutations in the LMNA gene may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable.

Diagnosis

In the past, doctors diagnosed progeria solely on physical symptoms, such as skin changes and a failure to gain weight. It was availble only when the child appear signs at their age of one or two years. Now, a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process.

When to seek urgent medical care?

Some children with progeria suffer from symptoms of coronary artery disease and stroke, which often appear in old people. These diseases may be severe and fatal. If your child experience either of the following symptoms, seeking urgent medical care as soon as possible:

Treatment options

No treatments have been proven effective. Most treatment focuses on signs and symptoms.

Where to find medical care for progeria?

Directions to Hospitals Treating progeria

Prevention of progeria

For parents of children with progeria, a genetic test may be needed to asses the possibility to have a future offspring with the same condition.

What to expect (Outook/Prognosis)?

Prognosis of children with progeria is very poor. They may suffer from diseases such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke.

Sources

http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome http://www.genome.gov/11007255