PROGERIA , Hutchinson-Gilford Progeria Syndrome or "HGPS"

PROGERIA

 Hutchinson-Gilford Progeria Syndrome or "HGPS"

A rare congenital childhood disorder marked by gross retardation of growth after the first year and by rapid onset of the physical changes typical of old age, usually resulting in death before age 20. Also called premature-senility syndrome


           

First Black Child With Progeria. (picture credit; cbsnews)

 The word progeria comes from the Greek words "pro", meaning "before" or "premature", and "gēras", meaning "old age"    Progeria = "prematurely old."

It was named after the doctors who first described it; Dr. Jonathan Hutchinson, 1886 and Dr. Hastings Gilford, 1897.

While there are different forms of Progeria, the classic type is Hutchinson-Gilford Progeria Syndrome.

 Approximately 140 cases have been reported in medical history. However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide.

There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria. Progeria appears to affect children of all races equally.

Here there is a de novo mutation leading to autosomal dominant single base substitution in the Lamin A gene. The expression of this mutated Lamin A gene results in a truncated protein known as 'Progerin'. In HGPS there is an excessive accumulation of Progerin that is toxic to cells, causing DNA damage and genomic instability.

 When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.

Progeria is not inherited, or passed down in families as children who suffer from it rarely live up to their reproductive age.
Children with progeria generally appear normal at birth.
Although they may come from varying ethnic backgrounds, children with Progeria have a surprisingly similar appearance.

signs and symptoms include;

•      A bigger head

•      Large eyes incomplete closure of the eyelids

•     A small lower jaw, thin lips and beaked nose

•     Ears that stick out

•     Slow and abnormal tooth growth, with below-average height and weight

•     Loss of body fat and muscle

•     Hair loss, including eyelashes and eyebrows

•     Narrowed face,

•     Head disproportionately large for face

•     Thinning, spotty, wrinkled skin

•     Visible veins

•     High-pitched voice

•     Hardening and tightening of skin on trunk and extremities (similar to scleroderma)

•     Some hearing loss

•     Fragile bones

•     Stiff joints

•     Hip dislocation

•     Insulin resistance

•     Severe progressive heart and blood vessel (cardiovascular) disease

Physical appearance is highly suggestive of the diagnosis and it can be confirmed through a genetic test for LMNA mutations.


Presently,there is no known cure for Progeria, though a cancer drug "farnesyltransferase inhibitors"(FTIs), is still under clinical trial and results showed significant improvements in bone structure, weight gain, and the cardiovascular system.

Treatments usually help ease or delay some of the disease's symptoms.

Drugs to lower cholesterol or prevent blood clots can be prescribed. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight.

Physical and occupational therapy can help keep the child moving if they have stiff joints or hip problems.

First Black Child With Progeria. (picture credit; cbsnews)

Surgery; Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.

Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they're sick or it's hot. Small meals more often can help them eat enough, too. Cushioned shoes or inserts can ease discomfort and encourage the child to play and stay active.

Those born with progeria have a live span of between 8-21 years, the average being 13 years.

There are other progeroid syndromes that run in families. These inherited syndromes cause rapid aging and shortened life span:
 1. Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
 2. Werner syndrome begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.



NOTES:

1.  The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company.

2.  Ewell Steve Roach & Van S. Miller (2004). Neurocutaneous Disorders. Cambridge University Press. p. 150. ISBN 978-0521781534.

3.  Hennekam RC (2006). "Hutchinson-Gilford progeria syndrome: review of the phenotype". Am. J. Med. Genet. A 140 (23): 2603–24.

4.  Hutchinson J (1886). "Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six". Lancet I: 923

5.  Kwang-Jen Hsiao (1998). Advances in Clinical Chemistry:33. Academic Press. p. 10. ISBN 0-12-010333-8.

6.  MayoClinic | progeria

7.  Progeria Research Foundation 

8.  WebMD | progeria

9.  Wikipedia |  Progeria