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Progeria - Types, Symptoms, Causes, Diagnosis, and Treatment

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Progeria - Types, Symptoms, Causes, Diagnosis, and Treatment

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Progeria is a rare genetic disorder that makes a 2-year-old look like he or she is aging too fast. Read about its types, causes, symptoms, diagnosis, and treatment.

Medically reviewed by

Dr. C. Elanchezhian

Published At December 28, 2019
Reviewed AtMarch 28, 2024

What Is Progeria?

Progeria is a rare genetic disorder that makes a person age prematurely. At birth, children with progeria look normal, but within the first two years of their life, they start looking older than is normal for their age. Hutchinson-Gilford progeria syndrome (HGPS) is the classic type of progeria caused by a mutation in the lamin A (LMNA) gene. It results in atherosclerosis of the arteries at a young age, which leads to an average lifespan of only about 13 to 14 years. Progeria is an extremely rare condition, as it affects one child in 20 million live births. 134 children across 46 countries are believed to have progeria.

This condition is fatal because of the risk of developing heart disease from an early age. Therefore, parents with a child affected with progeria should undergo genetic testing to know the chance of having a child with this condition.

What Are the Types of Progeria?

The common types of progeria are -

  1. Hutchinson-Gilford Progeria Syndrome (HGPS) - It is the classic type of progeria, with its onset in early childhood.

  2. Werner Syndrome (Adult Progeria) - The symptoms usually start in teenagers, and such adults live up to 40 or 50 years of age.

  3. Wiedemann-Rautenstrauch Syndrome (Neonatal Progeroid Syndrome) - The type of progeria affects fetuses that are still in the womb.

What Are the Symptoms of Progeria?

The following are how progeria affects the appearance of a child -

  • Low height and weight, as growth is slow.

  • The face appears narrow.

  • Beaked nose.

  • The head appears too big for the face.

  • The lower jaw is smaller.

  • Thin lips.

  • Eyes are prominent.

  • Incomplete closure of the eyelids.

  • Hair loss also affects eyelashes and eyebrows.

  • Veins are visible.

  • High-pitched voice.

  • The skin appears thin and wrinkled.

The following are the health conditions that they might face -

  • Severe cardiovascular disease.

  • The skin on the trunk and extremities become tight and rigid.

  • Tooth formation is delayed and abnormal.

  • Hearing loss.

  • Loss of muscle mass.

  • Hip dislocation.

  • Insulin resistance.

  • Loss of subcutaneous fat.

  • Fragile bones.

  • Stiff joints.

If your child is exhibiting signs of early aging, consult a doctor immediately. Progeria is often diagnosed during a regular pediatric checkup.

What Causes Progeria?

Progeria is a rare and progressive condition caused by a single genetic mutation. The gene involved in this condition is LMNA (lamin A) gene. This gene produces a protein known as progerin that maintains the structural integrity of the cell nucleus. However, when the mutation occurs, the protein gets defective, making the nucleus unstable. This instability weakens the cell structure, resulting in early and rapid aging leading to the symptoms of progeria.

Even though a genetic mutation causes this condition, it is believed that this is not a hereditary condition. But if one of the children in the family has progeria, the chances of getting this disorder is about two to three percent in the next child.

What Are the Complications of Progeria?

The possible complications include -

  • Atherosclerosis - Severe hardening of the arteries, which restricts blood flow.

  • Heart Problems - Heart attack and congestive heart failure.

  • Cerebrovascular Problems - Stroke due to lack of blood supply to the brain.

  • Arthritis - Inflammation of one or more joints leading to pain or stiffness that can worsen with age.

  • Cataracts - Clouding of the clear eye lens.

How Is Progeria Diagnosed?

This condition is diagnosed based on the signs and symptoms and physical examination. The physical examination includes:

  • Measuring the child’s height and weight.

  • Checking the eyesight and hearing.

  • Measuring blood pressure.

A genetic test can confirm LMNA mutations. However, as progeria is a very rare condition, the doctor will likely have no experience in treating or diagnosing this condition. Therefore, if progeria is detected in the child, it is wise to ask the doctor about the treatment plan because of the limited information on this disease.

What Is the Treatment for Progeria?

As of now, there is no cure for progeria. Therefore, regular heart monitoring is necessary to detect cardiovascular disease early. In addition, parents have to take the child for regular checkups, where the doctor will plot a growth chart based on the height and weight of the child. The doctors will also check the eyesight, hearing, and dental health of the child for any changes.

Some of the following treatment options can be applied to help relieve some signs and symptoms of progeria -

  • Aspirin - A daily low dose of Aspirin might be prescribed to prevent heart attacks and stroke.

  • Statins - To lower cholesterol.

  • Antihypertensives - Helps in lowering blood pressure.

  • Heparin or Warfarin (Anticoagulants) - Helps in preventing blood clots.

  • Antiepileptic Medications - This medicine is given to prevent seizures.

  • Physical and Occupational Therapy - This therapy helps the child function normally and relieves joint stiffness and other symptoms.

  • Nutritious Diet - A high-calorie diet with supplements is ideal for maintaining adequate nutrition.

  • Dental Examination - As this condition results in delayed and abnormal tooth formation, regular dentist visit becomes necessary.

What Are the Future Treatment Options?

Further investigation or research has to be done to treat progeria -

  • Advanced research has to be done on gene mutation will help identify the cause of this disease, which will in turn help develop a new treatment.

  • Find new ways to prevent atherosclerosis.

  • Further studies on the effectiveness of the drugs belonging to the group Farnesyltransferase inhibitors (FTIs), like Lonafarnib, which can help gain weight and make the blood vessels more flexible.

What Are the Necessary Lifestyle Changes?

To help the child affected with progeria, some of the following should be kept in mind -

  • Keep the child well hydrated, as dehydration can result in fatal complications. In addition, ensure the child is drinking enough water during summer and in case of illness.

  • Give high-calorie foods and supplements.

  • Food should be given as small, frequent meals to increase calorie intake.

  • Try to keep them as active as possible after consulting the doctor.

  • Make them wear cushioned shoes or shoe inserts.

  • Use sunscreen with an SPF (sun protection factor) of at least 15.

  • Get all vaccinations on time.

Conclusion:

Progeria is a fatal condition, with most kids living up to 13 to 14 years of age, but some live into their 20s. Not much was known about this disease a couple of decades back. But in 2003, after the discovery of the LMNA gene, there is hope for a cure in the future. Many scientists are working to develop a cure for this condition.

Frequently Asked Questions

1.

Who Are Commonly Affected By Progeria?

Progeria is a very rare genetic disease that causes a young child's body to age rapidly. This condition is due to the mutation that is seen in the lamin A (LMNA) gene. Most of the affected children with progeria do not live more than 13 years of age. This disease affects people of all sexes and races equally.

2.

What Are the Causes of Progeria?

A mutation in a single gene is responsible for progeria. The gene is called the lamin A (LMNA). This gene is necessary for holding the nucleus of a cell together in an intact position. When any mutation is seen in this gene, an abnormal lamina protein is formed, known as progerin. This abnormal mutation makes the cells unstable and results in progeria.

3.

Is Progeria Hereditary?

Hutchinson-Gilford progeria syndrome is a condition that is considered to be autosomal dominant, and does not usually run in families. This condition purely results from new mutations in the lamin A (LMNA) gene and commonly occurs in individuals with no family history of progeria.

4.

Will I Get Progeria Later in Life?

Werner’s syndrome is a type of progeroid syndrome. It is also termed as the “adult progeria.” It usually does not show any symptoms until the child reaches their late teen years. The average life span seen in these patients are 40 to 50 years, and these patients are commonly noted to get affected by mandibulofacial dysplasia.

5.

Does Progeria Have a Definitive Cure?

No, there is no definitive cure for progeria. However, regular monitoring for heart and blood vessels for the presence or aggravation of any previously diagnosed cardiovascular diseases can significantly help in the management of the child’s condition as early as possible with minimal intervention.

6.

Can Progeria Affect My Brain?

Though progeria affects the patient’s normal metabolism by developing insulin resistance, this condition does not impact the child's normal brain development or intellectual capabilities.

7.

What Are the Organs That Are Affected by Progeria?

The following are the commonly affected organs in a person who is affected by progeria.
- Kidneys.
- Brain.
- Adrenal glands.
- Liver.
- Testes.
- Heart.

8.

At What Age Can Progeria Be Diagnosed?

When a baby is born with progeria, the baby usually looks healthy, but by the age of 10 months to 24 months from birth, the accelerated clinical features of aging will be seen. Signs of progeria include stunted growth, lack of body fat, and muscle development.

9.

Is There Any Method to Reverse Aging?

Reverse aging technology is a recent advancement that helps increase lifespan and the health of the concerned individual. This procedure can decrease the rate of incidence of certain diseases such as cardiovascular diseases, stroke, and neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease.

10.

What Can Happen to the Body When I Have Progeria?

The symptoms of progeria, especially in adult life, are less obvious to a parent. The body’s common changes are hip dislocation, cataracts, arthritis, plaque buildup in the arteries, which predisposes the individual to atherosclerosis, and heart diseases. Some children with progeria are also noted to have strokes.

11.

Is Progeria a Contagious Disease?

Progeria is definitely not a contagious condition, and it is not passed to next generations. This condition is primarily due to genetic defects. So social discrimination of these individuals due to the thought that this condition can spread should be avoided.

12.

Is Progeria More Common in Any Specific Ethnicity?

According to the data provided by the Progeria Research Foundation, there are almost 350 to 400 children affected by progeria worldwide. Progeria is noted to affect boys and girls equally and is not specific to any race.

13.

What Are the Types of Progeria?

There are two broadly classified types of progeria. They are the Hutchinson-Gilford progeria syndrome (HGPS), which begins its onset in early childhood, and Werner syndrome, also known as the adult progeria. It is known to occur later.

14.

Is Progeria a Disability?

Hutchinson-Gilford Progeria Syndrome is one of the diseases that fulfill the requirement for a disability. The affected individuals can process claims under the compassionate allowances and certain other privileges in the social norms.

15.

How Can Progeria Be Prevented?

Most children affected with this condition die from heart conditions before the age of twenty. There is no treatment for progeria to date. But various studies have now discovered that inhibiting an enzyme known as ICMT can prevent progeria in mice. This has to be clinically tested in humans yet.

16.

Is There Any Possibility of Diagnosing Progeria Before Birth?

Progeria can be detected only in infancy or the early childhood period. This condition is frequently detected during regular checkups of babies, where the baby first shows the significant signs of premature aging. It is not possible to diagnose before birth.
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Dr. C. Elanchezhian
Dr. C. Elanchezhian

General Medicine

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