Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome

Overview

progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life.

Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear.

Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years.

There's no cure for progeria, but new treatments and research show some promise for managing symptoms and complications.

Symptoms

Usually within the first year of life, you'll notice that your child's growth has slowed. But motor development and intelligence are not affected.

Symptoms of this progressive disorder cause a distinctive appearance. They include:

Slowed growth and poor weight gain, with below-average height and weight.

Lack of fat that's stored just beneath the skin.

Head that is large compared with the face.

Small jaw, chin and mouth and thin lips.

Thin, curved nose with a slight hook at the end, which may look like a bird's beak.

Large eyes and eyelids that don't close completely.

Hair loss, including eyelashes and eyebrows.

Thin, spotty and wrinkled skin.

Veins easily seen through the skin.

High-pitched voice.

Premature aging.

Symptoms also include health issues:

Severe progressive heart and blood vessel disease, also known as cardiovascular disease.

Hardening and tightening of skin.

Delayed tooth formation and tooth shape that is not usual.

Some hearing loss.

Loss of fat under the skin and loss of muscle.

Problems with the growth and development of bones.

Joint problems, including stiff joints.

A hip that's forced out of the correct position, known as hip dislocation.

Dental problems.

No significant progression of puberty.

Insulin resistance, which means the body doesn't respond well to insulin made by an organ called the pancreas.

Causes

A change in one gene causes progeria. This gene, known as lamin A (LMNA), makes a protein that's needed to hold the center of a cell, called the nucleus, together. When the LMNA gene has a change, a flawed lamin A protein called progerin is made. Progerin makes cells unstable and appears to lead to progeria's aging process.

The changed gene that causes progeria is rarely passed down in families. In most cases, the rare gene change that causes progeria happens by chance.

Other similar syndromes

There are other syndromes that may include problems with progerin-like proteins. These conditions are called progeroid syndromes. The changed genes that cause these syndromes are passed down in families. They cause rapid aging and a shortened life span:

Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with symptoms of aging apparent at birth.

Werner syndrome, also known as adult progeria, begins in the teen years or early adulthood. It causes premature aging and conditions more common in old age, such as cataracts and diabetes.

Risk factors

There are no known factors, such as lifestyle or environmental issues, that increase the risk of having progeria or giving birth to a child with progeria. But the age of the father has been described as a possible risk factor. Progeria is extremely rare. If you've had one child with progeria, the chances of having a second child with progeria are slightly higher than the general population but are still low.

If you have a child with progeria, a genetic counselor can give you information about the risk of having other children with progeria.

Complications

Severe hardening of the arteries, known as atherosclerosis, is common in progeria. Arteries are blood vessels that carry nutrients and oxygen from the heart to the rest of the body. Atherosclerosis is a condition in which the walls of the arteries stiffen and thicken. This often limits blood flow. The condition especially affects arteries in the heart and brain.

Most children with progeria die of complications related to atherosclerosis, including:

Problems with blood vessels that supply the heart, resulting in heart attack and congestive heart failure.

Problems with blood vessels that supply the brain, resulting in stroke.

Other health problems frequently linked with aging — such as an increased cancer risk — usually don't develop as part of progeria.

Diagnosis

Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria.

A thorough physical exam of your child includes:

Measuring height and weight.

Putting measurements on a growth curve chart.

Testing hearing and vision.

Measuring vital signs, including blood pressure.

Looking for visible symptoms of progeria.

Feel free to ask questions during your child's exam. Progeria is a very rare condition. Your health care provider may need to gather more information before deciding on the next steps in caring for your child. Discussion of your questions and concerns will be helpful.

Treatment

There's no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child's condition.

During medical visits, your child's weight and height are measured and put on a chart that shows average measurements of children who are your child's age. Routine evaluations often include electrocardiograms and echocardiograms to check the heart, imaging tests, such as X-ray and MRI, and dental, vision and hearing exams.

Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child's condition and symptoms. These may include:

Lonafarnib (Zokinvy). This oral medicine helps prevent the buildup of faulty progerin and progerin-like proteins in cells. Preventing this buildup in cells can slow the progression of symptoms that occur in progeria, which can help some children live longer. The medicine is approved by the U.S. Food and Drug Administration for children 1 year and older.

Low-dose aspirin. A daily dose may help prevent heart attacks and strokes.

Other medicines. Depending on your child's condition, the health care provider may prescribe other medicines to treat complications. These may include dietary therapy, possibly with statins to help blood vessels and heart function. Also, blood thinners to help prevent blood clots. Medicines to treat headaches and other symptoms may be needed.

Physical and occupational therapy. Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating.

Nutrition. A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. Sometimes nutrition supplements are needed to provide extra calories.

Hearing aids. Although low-frequency hearing loss does not usually affect daily activities, sometimes listening devices or hearing aids are needed.

Eye and vision care. Not being able to close eyelids completely can cause dry eyes and damage to the surface of the eye. Moisturizing eye products and regular vision care can help.

Dental care. Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

Future treatment

Current research seeks to understand progeria and identify new treatment options. Some areas of research include:

Studying genes and the course of the condition to understand how it progresses. This may help identify new treatments.

Studying ways to prevent heart and blood vessel disease.

Testing more medicines for treatment of progeria

Type of Doctor Department : A pediatrician or general physician