Published on Dec 28, 2019 - 4 min read
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.
A rare genetic disorder that makes a person age prematurely is called progeria. At birth, children with progeria look normal, but within the first two years of their life, they start looking older for their age. Hutchinson-Gilford progeria syndrome (HGPS) is the classic type of progeria, which results from mutation in the lamin A (LMNA) gene. It results in atherosclerosis of the arteries at a young age, which makes these children live only an average of 13 to 14 years. Progeria is an extremely rare condition, as it affects 1 child in 20 million births. 134 children across 46 countries are believed to have progeria.
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. There are many scientists who are working to develop a cure for this condition.
The common types of progeria are:
Hutchinson-Gilford progeria syndrome (HGPS) - It is the classic type of progeria, with its onset in early childhood.
Werner syndrome (adult progeria) - The symptoms usually start in teenagers, and such adults live up to 40 or 50 years of age.
Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) - It is the type of progeria that affects fetuses that are still in the mother’s womb.
The following are how progeria affects the child’s appearance:
Low height and weight, as growth is slow.
The face appears narrow.
The head appears too big for the face.
The lower jaw is smaller.
Eyes are prominent.
Incomplete closure of the eyelids.
Hair loss, which also affects eyelashes and eyebrows.
Veins are visible.
The skin appears thin and wrinkled.
The following are the health issues that they might face:
Severe cardiovascular disease.
The skin on the trunk and extremities become tight and hard.
Tooth formation is delayed and abnormal.
Loss of muscle mass.
Loss of subcutaneous fat.
If your child is exhibiting signs of early aging, then consult a doctor immediately. Progeria is often diagnosed during a regular pediatric checkup.
This rare and progressive condition is caused by a genetic mutation, more specifically in the LMNA (lamin A) gene. This gene produces a protein that maintains the structural integrity cell’s nucleus. Without this strength, the cell structure becomes weak, which results in early and rapid aging. Even though this condition is caused by a genetic mutation, it is believed to be not a hereditary condition. But if one of your child has progeria, the chances of your next child getting this disorder is about 2 to 3 percent.
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.
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.
LMNA mutations can be confirmed by a genetic test. As progeria is a very rare condition, the doctor will have no experience in treating or diagnosing this condition. So if you feel your child has progeria, make sure you ask questions for your child’s treatment plan, so that the doctor will gather all the required information.
As of now, there is no cure for progeria. Regular monitoring of the heart is necessary to detect cardiovascular disease early on. You would have to take your kid for regular checkups, where the doctor will plot a growth chart based on your child’s height and weight.
They will also check your child’s eyesight, hearing, and dental health for any changes. To help relieve some signs and symptoms, the following treatment options might be suggested:
Aspirin - to prevent heart attacks and stroke, a daily low dose of Aspirin might be prescribed.
Statins - to lower cholesterol.
Antihypertensives - to lower blood pressure.
Heparin or Warfarin (Anticoagulants) - to prevent blood clots.
Antiepileptic medications - to prevent seizures.
Physical and occupational therapy - to help the child function normally with joint stiffness and other symptoms, these therapies will help.
Nutritious diet - to maintain adequate nutrition, a high-calorie diet with supplements is ideal.
Dental examination - as this condition results in delayed and abnormal tooth formation, regular dentist visit becomes necessary.
Further studies on the gene mutation will help identify the cause of this disease, which will help develop new treatments.
Find ways to prevent atherosclerosis.
Further studies on the effectiveness of the drugs belonging to the group Farnesyltransferase inhibitors (FTIs), like Lonafarnib. It can be used to gain weight and make the blood vessels more flexible.
To help your child with the signs and symptoms of progeria, you can:
Keep your child well hydrated, as dehydration can result in fatal complications in such kids. Make sure your kid drinks enough water during hot weather and any illness.
Give high-calorie foods and supplements. Make sure you give small frequent meals to increase calorie intake.
Keep them active as much as possible after consulting your doctor.
Make them wear cushioned shoes or shoe inserts.
Use sunscreen with an SPF of at least 15.
Get all vaccinations on time.
Progeria is a fatal condition, with most kids living up to 13 to 14 years of age, but some live into their 20s. This condition is fatal because of the risk of heart diseases and fragile bones. To know more about progeria, consult a doctor online now!
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