Progeria

Definition

Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since the first child with progeria was described in 1886, only about 100 cases of progeria have been documented in the scientific literature.

Children with progeria, also known as Hutchison-Gilford progeria syndrome (HGPS), generally appear normal at birth. By 6 to 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live longer — up to the age of 30. For at least 90 percent of children with progeria, the cause of death is a complication of the progressive stiffening of the arteries that lead to the heart and brain.

There's no cure for progeria, but ongoing research shows some promise for treatment.

Symptoms

Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. A child with progeria develops an appearance typical of those with the disorder, including a narrowed face and beaked nose, which makes the child look old.

Motor development and mental development remain normal. Other signs and symptoms of this progressive disorder include:

• Hair loss (alopecia), including eyelashes and eyebrows
• Hardening and tightening of skin on trunk and extremities (scleroderma)
• Loose, aged-looking skin
• Head too large for face
• Prominent scalp veins
• Prominent eyes
• Small lower jaw (micrognathia)
• High-pitched voice
• Delayed and abnormal tooth formation
• Loss of body fat and muscle
• Stiff joints
• Hip dislocation

Causes

In 2003, researchers announced the discovery of a single gene mutation responsible for Hutchison-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary to holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.

Unlike many genetic mutations, Hutchison-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).

There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner's syndrome. In Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, onset of aging begins in the womb, and signs and symptoms are apparent at birth. Werner syndrome begins in adolescence or early adulthood. These inherited progeroid syndromes also cause rapid aging and shortened life span.

When to seek medical advice

Contact your doctor if you notice any of the signs or symptoms that cause you to wonder whether your child may have progeria, including hair loss, skin changes or slowed growth.

Tests and diagnosis

No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.

A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.

Complications

Children with progeria usually develop severe atherosclerosis. This is a condition in which the walls of their arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow to their hearts or brains. Most children with progeria die of cardiovascular abnormalities, including heart attack and congestive heart failure. Other causes of death include stroke and severe malnutrition.

Treatments and drugs

There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.

Certain therapies may ease some of the signs and symptoms. They include:

• Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
• Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active.
• High-calorie dietary supplements. Including extra calories in your child's daily diet may help prevent weight loss and ensure adequate nutrition.
• Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed.
• Extraction of primary teeth. Your child's permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.

New drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, show promise in laboratory studies in correcting the cell defects that cause progeria. FTIs still need to be tested in clinical studies for treatment of progeria.

Coping and support

Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial effort.

In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you'll be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child's condition. If a group isn't for you, talking to a therapist or clergy member may be beneficial.

Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area.