Progeria

An extremely rare progressive genetic disorder that causes children to age quickly is called progeria or Hutchinson-Gilford progeria syndrome. It usually begins within the first 2 years of life. However, newborns appear healthy at birth usually and symptoms start to occur during the first 12 months of age. These include loss of fat tissue, delayed growth, and hair loss.

The life expectancy in people with progeria is approximately 15 years but some of them may die younger or live longer nearly 20 years old. In most cases, children with progeria die from heart problems and strokes.

Unfortunately, there is no cure for progeria but there are new treatments that may lessen the symptoms and reduce the risk of complications. Experts continue to research options to treat this genetic condition.

Symptoms

You may notice slowed growth in your child within the first year of life but intelligence and motor development are unaffected. Check below some progeria symptoms:

Lack of fat
Delayed growth and poor weight gain
Small chin, mouth, and jaw and thin lips
Voice changes
Premature aging
Hair loss
Large eyes and eyelids
Curved and thin nose
Wrinkles, spotty, and thin skin
Increased head size compared to the face

Those who suffer from progeria also may experience other health problems. These include:

Severe blood vessel or heart disease (also called cardiovascular disease)
Tightening and hardening of the skin
Unusual tooth shape and delayed formation
Hearing loss
Reduced fat under the skin
Issues with the development and growth of bones and muscles
Joint stiffness
Dental problems
Hip dislocation
Insulin resistance

Commonly, this condition is identified in infancy or early childhood. If you notice that your child experiences any of the previous symptoms or health problems, immediately contact your healthcare professional.

Causes

The primary cause of this condition is a gene mutation (change). It is called lamin A (LMNA) and produces a protein required to hold the center of a cell (nucleus). When a mutation of the LMNA occurs, the protein produced by this gene makes cells unstable causing progeria.

The gene that leads to this genetic syndrome rarely passes in families, mostly, LMNA changes happen randomly.

Other Syndromes

However, there are other syndromes linked to proteins such as progerin. Healthcare providers call these conditions progeroid syndromes. Check below some examples:

Wiedemann-Rautenstrauch syndrome – This condition is also called neonatal progeroid syndrome and it begins in the womb during pregnancy. Symptoms of aging are apparent at birth.
Werner syndrome – Is a condition, in which premature aging and diseases (such as diabetes and cataracts) more common in older people occur. This syndrome is also known as adult progeria.

Risk Factors

Generally, this condition has no risk factors such as environmental or lifestyle issues. However, experts the age of the father is a potential risk factor. Anyway, this is an extremely rare disorder. If you have a child with progeria the risk of having other children with the same genetic disorder increases but the risk continues to be low. Discuss with your genetic counselor if you have a child with progeria about the risk of this condition for other children.

What Are The Possible Complications of Progeria?

One common complication noticed in people with progeria is atherosclerosis (severe hardening of the arteries). Blood vessels that carry oxygen and nutrients to the heart, lungs, and other viral body organs and tissues are called arteries. Blood flow is reduced in people with atherosclerosis because the walls of the arteries become thick and stiff. Usually, in people with this condition, the arteries from the heart and brain are mostly affected.

Most people with progeria die due to complications associated with atherosclerosis. These include:

Issues with blood vessels that supply the brain with blood (stroke)
Reduced blood flow to the heart, often leads to myocardial infarction or congestive heart failure.

However, other health problems associated with aging (such as cancer) are not noticed in people with progeria.

Diagnosis

Usually, physicians suspect progeria based on symptoms. However, to confirm the condition, a genetic test is required. This test helps determine if there is a change in the LMNA gene. Physicians also perform a physical examination that includes:

Weight and height measurement
Vision and hearing tests
Measuring other vital signs (such as blood pressure)
Checking for visible progeria symptoms

Treatment

There is no way to cure this condition but early diagnosis and proper treatment can help lessen the symptoms and improve the child’s quality of life. Furthermore, regular checkups are recommended. These include electrocardiograms and echocardiograms to check the heart, imaging tests (such as X-ray and MRI), and dental, hearing, and vision examinations.

Fortunately, there are different medicines and therapies that may lessen the symptoms. Check below some treatment options usually prescribed by doctors for people with progeria:

Lonafarnib – This is an FDA-approved medication used to prevent the buildup of faulty progerin in the cells. Therefore, it may help to slow down progeria progression.
Low-dose Aspirin – Sometimes, doctors may prescribe a low dose of Aspirin to prevent strokes and myocardial infarctions.
Other medications – These include medicines to treat progeria complications. For example, statins help to improve the function of blood vessels and heart, and anticoagulants (also called blood thinners) to prevent blood clots. Moreover, dietary changes also are recommended by doctors for children with progeria.
Physical and occupational therapy – These therapies help children with joint stiffness and hip problems, and effective ways to manage their daily routine (including brushing teeth, eating, and dressing).
Nutrition – Physicians usually recommend high-calorie foods to keep adequate nutrition. In some cases, they also may advise taking some supplements to provide extra calories.
Hearing and vision care – While low-frequency hearing loss does not cause any significant problems in daily activities, some people need hearing aids or listening devices. Regular eye checkups are recommended because many people with progeria are not able to close eyelids thoroughly and need moisturizing eye products. Otherwise, it may lead to eye damage.
Dental care – People with this genetic disorder frequently experience dental problems and regular appointments with a pediatric dentist are recommended.

Frequently Asked Questions

What is the main cause of progeria?

This genetic condition occurs due to a gene mutation (called LMNA or lamin A). This is a protein that holds the nucleus of a cell together. The mutation of LMNA often happens randomly and does not pass from biological parents to their children.

Is it possible to cure progeria?

There is no way to cure the condition but different treatment options are available to lessen the symptoms and improve your child’s quality of life. For more details, discuss it with your doctor.

What are the complications of progeria?

These include:

Cardiovascular disease
Skin changes
Joint, bone, and muscle problems
Vision disorders
Hearing loss
Nail defects
Other health problems such as osteoporosis (bone loss), cancer, diabetes, high blood pressure (hypertension), and others.

If you notice that your child experiences any of the previous complications, you should visit a pediatrician immediately. Ask your healthcare provider if you have additional questions.