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 -
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Hutchinson-Gilford Progeria Syndrome (HGPS) - It is the classic type of progeria, with its onset in early childhood.
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Werner Syndrome (Adult Progeria) - The symptoms usually start in teenagers, and such adults live up to 40 or 50 years of age.
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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 -
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Low height and weight, as growth is slow.
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The face appears narrow.
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Beaked nose.
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The head appears too big for the face.
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The lower jaw is smaller.
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Thin lips.
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Eyes are prominent.
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Incomplete closure of the eyelids.
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Hair loss also affects eyelashes and eyebrows.
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Veins are visible.
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High-pitched voice.
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The skin appears thin and wrinkled.
The following are the health conditions that they might face -
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Severe cardiovascular disease.
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The skin on the trunk and extremities become tight and rigid.
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Tooth formation is delayed and abnormal.
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Loss of muscle mass.
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Hip dislocation.
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Insulin resistance.
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Loss of subcutaneous fat.
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Fragile bones.
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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 -
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Atherosclerosis - Severe hardening of the arteries, which restricts blood flow.
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Heart Problems - Heart attack and congestive heart failure.
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Cerebrovascular Problems - Stroke due to lack of blood supply to the brain.
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Arthritis - Inflammation of one or more joints leading to pain or stiffness that can worsen with age.
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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:
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Measuring the child’s height and weight.
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Checking the eyesight and hearing.
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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 -
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Aspirin - A daily low dose of Aspirin might be prescribed to prevent heart attacks and stroke.
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Statins - To lower cholesterol.
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Antihypertensives - Helps in lowering blood pressure.
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Heparin or Warfarin (Anticoagulants) - Helps in preventing blood clots.
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Antiepileptic Medications - This medicine is given to prevent seizures.
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Physical and Occupational Therapy - This therapy helps the child function normally and relieves joint stiffness and other symptoms.
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Nutritious Diet - A high-calorie diet with supplements is ideal for maintaining adequate nutrition.
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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 -
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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.
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Find new ways to prevent atherosclerosis.
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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 -
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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.
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Give high-calorie foods and supplements.
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Food should be given as small, frequent meals to increase calorie intake.
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Try to keep them as active as possible after consulting the doctor.
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Make them wear cushioned shoes or shoe inserts.
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Use sunscreen with an SPF (sun protection factor) of at least 15.
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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.