Progeria: symptoms, causes, complications of treatment & bull; hello healthy

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Definition

What is progeria?

Progeria, or also known as Hutchinson-Gilford Progeria Syndrome (HPGS), is a condition or congenital defect in babies.

Progeria is a condition characterized by aging very quickly in infants, even their life span may not be long.

The average estimated life span for babies with progeria is 13 or 14 years, but some die earlier and some survive more than 20 years.

Babies born with progeria initially look normal like babies in general. However, after the first year or two, signs and symptoms of progeria such as hair loss, skin wrinkles, and slow growth begin to appear.

Progeria is a condition that can be caused by a genetic mutation. Until now, no treatment has been found that can cure progeria completely. Treatment is focused on helping reduce signs and symptoms in babies.

How common is this condition?

Progeria is a very rare disease. It is estimated that there are only about 1 in 4 million newborns worldwide with this condition.

Until now, there are as many as 134 children from 46 countries who suffer from this congenital disorder of progeria. Progeria affects both sexes of both baby boys and girls and equally in all races.

To find out more information about progeria in babies, you can consult a doctor.

Signs & Symptoms

What are the signs and symptoms of progeria?

The signs and symptoms of progeria are usually not visible at birth. However, when the baby is 1 or 2 years old, progeria will start to affect the physical appearance of the baby.

Children born with progeria will show a slowdown in physical development. However, gross motor development, fine motor development, and intelligence of the baby will not be affected.

Progeria is a condition that can also cause babies to not gain weight normally so that their physical growth is stunted.

Quoting from the Cleveland Clinic, the most common signs and symptoms of progeria are as follows:

• The baby's head circumference is getting bigger
• The eyes are enlarged and the eyelids don't close completely
• The lower jaw does not grow, so it looks smaller than the rest of the face
• A thin nose with a beak-like tip
• Ears that appear sticking out
• Thinning skin, patches and wrinkles with veins that are visible from the outside
• Slow and abnormal tooth growth
• A high pitched voice
• Losing body fat and muscle
• Hair loss, including eyelashes and eyebrows

As they grow, children may experience illnesses experienced by adults, such as bone loss and cardiovascular disorders.

Heart attacks and strokes are the most common causes of progeria-related death. Some of the conditions that can occur related to progeria are as follows:

• Skin on the body, feet and hands tightens (similar to scleroderma)
• Delayed and abnormal tooth formation
• Partial hearing loss
• Losing body fat and muscle mass
• Brittle bones
• Stiff joints
• Pelvic dislocation
• Insulin defenses
• Progressive disease of the heart and blood vessels (cardiovascular)

There may be signs and symptoms not listed above. If you have concerns about a particular symptom, consult your doctor.

When should I see a doctor?

You should contact your doctor immediately if you notice anything abnormal in your child's development.

Conditions that you need to pay attention to are the problem of hair loss, changes in skin texture, or slow growth.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes progeria?

Progeria is a condition caused by a genetic mutation. This genetic mutation occurs from birth, but experts believe this condition is not passed on from the parents.

This means, parents who have children with progeria will not necessarily give birth to children with the same conditions.

Launching from the Mayo Clinic, genetic mutations in babies with progeria occur in the LMNA or lamin A gene. This gene plays a role in producing proteins that hold the nucleus together in a cell.

If there is a change or mutation in this gene, the protein will become defective. This causes the structure of the nucleus to become unstable so that the body's cells die more quickly.

This condition is believed to be the cause of the premature aging process in children. Genetic mutations such as those found in this disease are also classified into several types, namely:

Wiedemann-Rautenstrauch syndrome

Also known as progeroid neonatal syndrome, this disease develops since the baby is still in the womb. The signs and symptoms of aging have appeared when the baby was born.

Werner's Syndrome

Werner's syndrome is also known as adult progeria. Symptoms begin to appear in adolescence or early adulthood, such as premature aging.

There are also diseases commonly suffered by adults, such as cataracts and diabetes.

Risk factors

What increases the risk of getting progeria?

Risk factors are environmental or lifestyle conditions that can increase a person's risk of contracting certain diseases.

Unfortunately, until now, it is not certain what factors, lifestyle, and environmental conditions affect the birth of a baby with progeria.

Given this condition is very rare and very rare, there are no known risk factors. This is because a genetic mutation affects a single sperm or egg before fertilization occurs.

In about 1 in every 100 cases of progeria, this congenital abnormality or defect can be passed on to the next generation in the family.

Complications

What are the complications caused by progeria?

Children born with progeria generally experience hardening of the arteries (atherosclerosis). This condition occurs when the artery walls become thickened and stiff.

This can cause a lack of blood flow and oxygen from the liver to other body organs.

In some cases, babies and children who grow up with progeria die from complications associated with atherosclerosis, namely:

1. Cardiovascular problems

If damaged blood vessels also cause heart problems, this has the potential to trigger heart attacks and congestive heart failure.

2. Cerebrovascular problems

If damage to blood vessels occurs in part of the brain, this condition can increase the risk of stroke, even permanent brain damage.

Other health problems that may arise are arthritis, cataracts, and an increased risk of developing cancer.

Diagnosis & treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How to diagnose this condition?

Progeria is a condition that can be diagnosed with the most obvious symptoms. Doctors generally will diagnose this disease based on the signs and symptoms that appear in the first or second year since the baby is born.

Usually, this disease is detected when the doctor is doing routine checks on children. The doctor will perform a physical examination, a baby hearing test, a baby's vision test, and compare the weight and height of the baby and child according to their age.

The physical examination that will be performed by the doctor if your child is suspected of having progeria is as follows:

• Measure height and weight.
• Compare growth against a normal child's growth chart.
• Test hearing and vision.
• Check vital organs, including blood pressure.
• Look for typical signs and symptoms of disease.

A genetic specialist is also usually required to confirm a diagnosis. Several additional tests will be done to get more accurate results, such as blood and genetic tests.

How to treat progeria?

Until now, a cure for progeria has not been found. However, researchers are working to find a way out and research some drugs that may be able to treat this disease.

The researchers studied chemicals called Farnesyltransferase inhibitors (FTIs), which are used to treat cancer. It is believed that these substances can reverse the nuclear structural abnormalities that are believed to cause progeria.

As a parent with a child suffering from this disease, you can continue to monitor the child's growth and development by routinely going to the doctor or doing therapy.

Physical therapy is important for maintaining the child's posture, as well as reducing pain in the waist and legs. Therapy is also necessary so that children can carry out normal daily activities, such as eating, bathing, and writing.

Treatment and treatment for progeria focuses on reducing symptoms so that the child can live as comfortably and naturally as possible. The following are the types of medications and medical treatments available for progeria:

1. Monitor heart function

Infants and children suffering from progeria are strongly advised to have routine checks of their heart and blood pressure, such as an echocardiogram test.

2. Routine image taking test

Tests such as an MRI or CT scan can be done to check for other diseases that arise besides progeria, such as a stroke or injury to the head.

3. Routine eye tests

Some children with progeria also have vision problems, such as farsightedness or dry eyes.

Over time, your child may also be at risk for cataracts, increased sensitivity to light, and eye irritation.

4. Hearing test

In some cases, children who have progeria also experience hearing loss. This condition can be overcome by wearing hearing aids.

5. Routine dental examinations

Tooth and mouth problems are very common in people with this disease, such as tartar, crowding, late teething, and gum damage.

That is why you should regularly take your little one to the dentist to maintain the health of their teeth and mouth.

6. Administration of aspirin

Your doctor will also prescribe a low dose of aspirin to help prevent possible heart attacks and strokes.

7. Other medicines

The administration of drugs to treat progeria depends on the child's condition. The doctor may also prescribe other medications.

Other types of drugs that can be given such as statins to lower cholesterol, blood pressure-lowering drugs, blood-thinning drugs, and painkillers.

Home remedies

What are some lifestyle changes or home remedies that can be done to treat progeria?

Here are lifestyle and home remedies that can help you manage or reduce progeria symptoms:

• Children with this condition usually have problems with hydration. Make sure your child drinks lots of fluids, especially when they are sick or in hot weather.
• If your child has difficulty eating, try dividing the food into smaller but more frequent portions.
• Provide opportunities for children to learn and be active in their lives. Consult with your pediatrician to find out which activities are best for children.
• To make the child's feet more comfortable, use pads or soles for the feet.
• Use a sunscreen with an SPF of at least 15 to protect your child's skin.
• Make sure your child gets all the necessary immunizations.

If you have any questions, consult your doctor for the best solution to your problem.