Table of Contents


Progeria a.k.a. Hutchinson-Gilford Progeria Syndrome

What is progeria?

Progeria, or Hutchinson-Gilford progeria syndrome, is an extremely rare, fatal genetic childhood disease with features that resemble premature aging. Affected children usually look normal at birth and in early infancy, but then fail to thrive and start to show signs of old age.

What causes progeria?

Progeria is caused by a mutation of the gene LMNA, or lamin A, which is a key protein of the membrane surrounding the cell’s nucleus. This defective protein overall makes the nucleus unstable, in turn leading to the process of premature aging. Progeria is not usually passed down in families, and the gene mutation is almost always a chance occurrence.

What are the symptoms of progeria?

The first sign of progeria is when children fail to thrive and develop a localized scleroderma-like skin condition, and this is followed by a series of physical abnormalities that begin to surface. Children with progeria have prominent eyes, a thin nose, thing lips, a small chin, and protruding ears. In addition, progeria also causes hair loss, aged-looking skin, joint abnormalities, and fat loss. Further into childhood, the signs and symptoms of progeria become more noticeable, and children with progeria experience hardening of the arteries, which can lead to all kinds of severe heart problems.

How is progeria diagnosed?

Progeria is usually diagnosed after the child is two years old, as this is when the features of the disease really begin to become noticeable. A healthcare provider will conduct a clinical evaluation, examine characteristic physical findings, and use diagnostic genetic testing through The Progeria Research Foundation. In addition, specialized imaging tests can be conducted to assess certain skeletal abnormalities or cardiovascular problems

What are the available treatments for progeria?

About five years ago, the results of the first clinical drug trial for progeria patients revealed that Lonafarnib, a type of farnesyltransferase inhibitor that was originally creased to treat cancer, was show to help improve the symptoms of progeria. However, lonafarnib is not yet FDA-approved, so right now, treatments are symptomatic and supportive.

Where can I find out more information about progeria?

Progeria a.k.a. Hutchinson-Gilford Progeria Syndrome Articles

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

© Copyright Patient Worthy

Close Menu