Progeria
What is it?
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear normal at birth. During the first year, signs and symptoms, such as slow growth and hair loss, begin to appear. Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 13 years. Some with the disease may die younger and others may live longer, even up to 20 years.
There's no cure for progeria, but ongoing research shows some promise for treatment.
Additional names
This group contains additional names:
- Wrinkly skin syndrome
- Werner syndrome
- Refetoff syndrome
- Pseudopuberty
- Premature aging syndrome
- Pineal gland disorder
- Neonatal pseudo-hydrocephalic progeroid syndrome
- Metageria
- Leprechaunism syndrome
- Insulin receptor defect
- Hypothalamic-pituitary-adrenal axis dysfunction
- Hypothalamic pseudopuberty
- Hutchinson-Gilford syndrome
- Acrogeria
- Androgen resistance syndrome
- Complex gonadal endocrine disorder
- Abnormal 17-ketosteroids
- Abnormal corticotropin releasing factor
Signs & symptoms
There are usually no symptoms when a baby is born, but they start to show signs of the disease during their first year. They develop physical traits including:
- Slow height and weight growth
- A bigger head
- Large eyes, which they can’t close all the way
- A small lower jaw
- A thin nose with a "beaked" tip
- Ears that stick out
- Superficial veins
- Slow and abnormal tooth growth
- A high-pitched voice
- Loss of body fat and muscle
- Hair loss, including eyelashes and eyebrows
- Thin, wrinkled skin that shows spots
As children with progeria get older, they get diseases that are more typical to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. Children with progeria usually die of heart attacks or strokes. Progeria doesn't affect a child's intelligence or brain development. A child with the condition isn't any more likely to get infections than other kids, either.
Diagnosis
The symptoms are noticeable. It's likely that a pediatrician will spot them during a routine checkup. Diagnosis includes a physical exam, test hearing and vision, measuring pulse and blood pressure, and comparing a child's height and weight to other kids the same age. To confirm the diagnosis there is a need for a blood test for genetic diagnosis.
Treatment
There's no cure for progeria, but researchers are working on finding one. One clinical trial is looking at a kind of cancer drug, FTIs (farnesyltransferase inhibitors), to see if it can help slow the disease.
Treatments can help ease or delay some of the disease's symptoms.
- Medication and diet changes: in order to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight.
- Physical and occupational therapy can help the child keep moving if they have stiff joints or hip problems.
- Surgery: Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.
- At home: Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they're sick or it's hot. Small meals more often can help them eat enough, too. Cushioned shoes or inserts can ease discomfort and encourage the child to play and stay active.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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