Progeria is a congenital disease that causes children to experience premature aging from the first 2 years of life. Children with progeria are usually bald, have wrinkled skin , and are smaller than their age.
Progeria is a very rare condition. Worldwide, only 1 in 4 million babies are born with this condition. Even though it cannot be cured, there are several treatments that can be done to improve the quality of life for people with progeria, and prevent the condition from getting worse.
Causes of Progeria
Progeria or Hutchinson-Gilford progeria occurs due to changes (mutations) in the LMNA gene. It is not known exactly what causes this genetic mutation and what are the factors that trigger it.
Mutations in the LNMA gene cause the formation of progerin, an abnormal protein that causes rapidly aging cells to form. As a result, children who suffer from progeria will experience symptoms of premature aging.
Hutchinson-Gilford progeria is not a hereditary disease. Apart from Hutchinson-Gilford progeria, there are two other conditions that also cause symptoms of premature aging, namely:
progeria syndrome Wiedemann-Rautenstrauch progeria syndrome is progeria that occurs in the fetus. Newborns with this syndrome have visible signs of aging.
Werner's progeria syndrome Werner
's progeria syndrome is progeria that occurs in adolescents and adults. In this condition, sufferers can experience osteoporosis, cataracts, and diabetes.
Progeria risk factors
There are no known factors that increase the risk of developing progeria. However, mothers who have given birth to a child with progeria have a 2–3% chance of having a child with the condition in their next pregnancy.
Babies with progeria will usually look normal when they are born. Usually, progeria symptoms only start to appear when children are 9–24 months old.
Children who suffer from progeria will experience growth delays and experience signs of aging. Even so, this condition generally does not interfere with the motor development (movement) and intelligence of children.
Some of the symptoms of progeria are:
- Lower height and weight than children of their age or stunted growth
- The face looks small, the jaw is small, the lips are thin, and the nose is shaped like a bird's beak
- Hair on head, eyes and eyebrows does not grow (bald)
- The eyeball protrudes and the eyelid cannot close completely
- Thinning skin, wrinkles , and black spots appear like in old people
- The veins are clearly visible
- Voices sound louder
- Teeth grow late or grow in an abnormal shape
- Hearing ability decreases
- Stiff joints
- Muscle mass and fat under the skin is reduced
- The skin becomes hard and stiff like having scleroderma
Children with progeria also often have heart disease , plaque buildup in the arteries, stroke , cataracts, arthritis , and dislocations of the pelvic bones.
When to see a doctor
Immediately consult your child to the doctor if he experiences the symptoms mentioned above. Generally, symptoms will appear when the child is around 9-24 months old. Early detection and early treatment is necessary to improve the quality of life for children and prevent complications.
Get regular checkups with your doctor to monitor your child's growth and development
Diagnosis of Progeria
To diagnose progeria, the doctor will conduct a debriefing with parents regarding the complaints experienced by the child. Next, the doctor will conduct a thorough examination of the child, including:
- Measurement of body temperature, blood pressure, heart rate and respiratory rate
- Examination to assess signs of premature aging in children
- Measurement of weight and height
- Examination of visual acuity and hearing ability
- Examination to assess the child's development
To confirm the diagnosis, the doctor will carry out a genetic examination using a child's blood sample.
In some conditions, progeria symptoms have appeared since the newborn. These symptoms can be seen on the baby's face and skin when the doctor performs routine checks on newborns.
Progeria cannot be cured. Treatment aims to improve quality of life, and slow down the appearance of complaints and complications.
Handling progeria will be adjusted to the conditions and symptoms that appear. This treatment generally takes the form of:
To slow down the occurrence of complications, children with progeria need to regularly carry out health checks. Some of the health checks that will be carried out are examination of heart function, vision, hearing, teeth, skin, and bones.
In addition, routine checks are also carried out to monitor the growth and development of children.
Administration of drugs
Medicines given by doctors are adjusted to the symptoms experienced by progeria sufferers. Some types of drugs that can be given are:
- Antiplatelet drugs, such as aspirin , to prevent heart attacks and strokes
- Cholesterol-lowering drugs, for example statin class drugs, to treat high cholesterol
- Antihypertensive drugs to lower blood pressure
- Anticoagulant medication to prevent blood clots from forming
Physiotherapy and occupational therapy
Physiotherapy aims to train the limbs so that children can remain active. This is because children who suffer from progeria generally feel pain and experience movement disorders due to arthritis. Physiotherapy can also help relieve pain.
Apart from physical therapy, children with progeria can also undergo occupational therapy. The goal is for children to be able to carry out daily activities, such as eating, bathing or dressing independently.
There are several treatments that need to be done at home in children with progeria, namely:
- Provide adequate intake of nutritious food and water
- Provide supplements according to doctor's recommendations to meet the child's daily needs for certain nutrients
- Wearing footwear that is comfortable and in accordance with the shape of the child's feet so that he can move comfortably
- Apply sunscreen to the child's skin if he wants to do activities outside the house during the day, so that his skin doesn't burn
- Complete child immunizations and undergo routine doctor checks according to schedule
Over time, people with progeria will experience arteriosclerosis or hardening of the arteries. Arteriosclerosis will increase the risk of stroke and heart disease, such as heart attack or congestive heart failure.
In addition, progeria can also cause other complications, namely:
Progeria is difficult to prevent, because this condition occurs randomly. If your child has progeria and you intend to have more children, consult your doctor first. This is because you have a higher risk of having a child with a similar condition in your next pregnancy.