Definition

What is progeria?

Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition in which, patients, are usually children, age fast and die young. The average life expectancy for a child with progeria is about 13 years, but some with the disease die younger and some live 20 years or longer.

Babies born with this condition looks normal when they are born. During the first year, signs and symptoms, such as slow growth and hair loss, begin to appear.

 

How common is progeria?

At present there are 74 known cases of progeria around the world. The disease affects both sexes and all races equally. It is estimated to affect about 1 in every 4 million births worldwide. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of progeria?

The common symptoms of progeria usually show up obviously when the child is 1-2 years old. During the first 1-2 years, it affects the physical look of the child remarkably, but not their brain’s development. Children with progeria do not grow or gain weight normally, symptoms include:

  • Enlarged head;
  • Enlarged eyes and incomplete closure of the eyelids;
  • The lower jaw does not develop, thus making it look smaller compare to the rest of the face;
  • A thin nose with a “beaked” tip;
  • Ears that stick out;
  • Thinning, spotty, wrinkled skin with veins that can be seen from outside the skin;
  • Slow and abnormal tooth growth;
  • A high-pitched voice;
  • Loss of body fat and muscle;
  • Hair loss, including eyelashes and eyebrows.

When the child gets older, he/she might have diseases that typically found in older age people, such as bone loss and cardiovascular problems. Heart attacks and strokes are common cause of death in progeria. Some conditions that might occur are:

  • Hardening and tightening of skin on trunk and extremities (similar to scleroderma);
  • Delayed and abnormal tooth formation;
  • Some hearing loss;
  • Loss of fat under the skin and loss of muscle mass;
  • Fragile bones;
  • Stiff joints;
  • Hip dislocation;
  • Insulin resistance;
  • Severe progressive heart and blood vessel (cardiovascular) disease.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

 

When should I see my doctor?

You should contact your doctor if your child does not appear to be growing or developing normally, including problems with hair loss, skin changes or slowed growth.

Causes

What causes progeria?

Progeria is a genetic condition but it isn’t passed down from the parents. It is not common to have more than one child in the family with the disease. It happens because of a gene mutation in the child that affects Lamin A – a protein that hold the cell nucleus together. When this gene has a defect, the cells become unstable, leading to progeria’s aging process.

Risk factors

What increases my risk for progeria?

There is no known risk factor for progeria as the gene mutation affects a single sperm or egg just before conception. In about 1 in every 100 cases of progeria, the syndrome is passed down to the next generation within the same family.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

 

How is progeria diagnosed?

Progeria can be diagnosed visibly  because the symptoms are very noticeable. It’s likely that your child’s pediatrician will spot them during a routine checkup. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child’s height and weight to other kids the same age.

It also requires a specialist in medical genetics to confirm the diagnosis with more accurate medical test, such as blood and genetic tests.

How is progeria treated?

There is no cure yet for progeria. But scientists have been working on a treatment and results are shown to be positive. They study a chemical called Farnesyltransferase inhibitors (FTIs), currently used for treating cancer. Scientists think that it might reverse the nuclear structure abnormalities that are believed to cause progeria. Studies carried out on mice with progeria-like signs and symptoms showed that FTIs appeared to offer some improvements.

Present treatment for progeria mostly focuses on reducing symptoms, such as:

  • Low-dose aspirin to prevent heart attacks and stroke.
  • Statins to lower cholesterol or anticoagulants to help prevent blood clots.
  • Using growth hormone to help increase height and weight.
  • Physical and occupational therapy to help with joint stiffness and hip problems.
  • Extraction of primary teeth to prevent overcrowding and encourage proper positioning of the permanent teeth.

Lifestyle changes & Home remedies

What are some lifestyle changes or home remedies that can help me manage progeria?

The following lifestyles and home remedies might help you cope with progeria:

  • Children with progeria usually have problems with hydration. Make sure your child drink enough fluids, especially during an illness or in hot weather.
  • If your child has difficulty eating, try to divide the meals into smaller portion and eat more meals per day.
  • Give your child opportunity to learn and stay active in life. Check with your child’s doctor to learn which activities are best for your child.
  • To make your child’s feet more comfortable, use a feet cushion or soles.
  • Use broad-spectrum sunscreen with an SPF of at least 15 to protect your child’s skin.
  • Make sure your child get all the necessary childhood immunizations.

If you have any questions, please consult with your doctor to better understand the best solution for you.

 

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: July 7, 2017 | Last Modified: July 7, 2017

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