Hutchinson-Guilford Syndrome or premature aging, is a rare chronic condition with a genetic cause. It causes many symptoms of aging at an early age.
Symptoms usually appear in the first two years of the patient’s life, and continue to worsen. Symptoms of this disease are severe and chronic, and therefore the patient dies at an early age (the third decade of his life as a maximum).
This genetic disease is caused by a genetic mutation, but in most cases it is not inherited. Despite the rarity of this disease, it has received great attention in recent decades, as it has opened wide horizons for scientists to understand how aging occurs naturally.
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.
Usually within the first year of life, growth of a child with progeria slows markedly, but motor development and intelligence remain normal.
Signs and symptoms of this progressive disorder include a distinctive appearance:
▪️Slowed growth, with below-average height and weight.
▪️ Narrowed face, small lower jaw, thin lips and beaked nose.
▪️ Head disproportionately large for the face.
▪️ Prominent eyes and incomplete closure of the eyelids.
▪️ Hair loss, including eyelashes and eyebrows.
▪️ Thinning, spotty, wrinkled skin.
▪️ Visible veins.
▪️ High-pitched voice.
Signs and symptoms also include health issues:
▪️Severe progressive heart and blood vessel (cardiovascular) disease.
▪️Hardening and tightening of skin on the trunk and extremities (similar to scleroderma).
▪️Delayed and abnormal tooth formation. Some hearing loss.
▪️Loss of fat under the skin and loss of muscle mass.
▪️Skeletal abnormalities and fragile bones.
▪️Stiff joints .
A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable. This appears to lead to progeria’s aging process.
Unlike many genetic mutations, progeria is rarely passed down in families. The gene mutation is a rare, chance occurrence in the majority of cases.
Other similar syndromes. There are other progeroid syndromes that do run in families.
These inherited syndromes cause rapid aging and a shortened life span:
▪️Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
▪️Werner syndrome, also known as adult progeria, begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.
There are no known factors, such as lifestyle or environmental issues, which increase the risk of having progeria or of giving birth to a child with progeria. Progeria is extremely rare. For parents who have had one child with progeria, the chances of having a second child with progeria are about 2 to 3 percent.
Children with progeria usually develop severe hardening of the arteries (atherosclerosis). This is a condition in which the walls of the arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including:
_ Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure.
_ Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in stroke.
Other health problems frequently associated with aging — such as arthritis, cataracts and increased cancer risk — typically do not develop as part of the course of progeria.
Doctors may suspect progeria based on signs and symptoms characteristic of the syndrome. A genetic test for LMNA mutations can confirm the diagnosis of progeria.
A thorough physical exam of your child includes:
▪️Measuring height and weight.
▪️ Plotting measurements on a normal growth curve chart.
▪️ Testing hearing and vision.
▪️ Measuring vital signs, including blood pressure.
▪️ Looking for visible signs and symptoms that are typical of progeria.
There’s no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child’s condition.
During medical visits, your child’s weight and height is measured and plotted on a chart of normal growth values. Additional regular evaluations, including electrocardiograms and dental, vision and hearing exams, may be recommended by your doctor to check for changes.
Certain therapies may ease or delay some of the signs and symptoms. Treatments depend on your child’s condition and symptoms.
These may include:
▪️Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
▪️ Other medications. Depending on your child’s condition, the doctor may prescribe other medications, such as statins to lower cholesterol, drugs to lower blood pressure, anticoagulants to help prevent blood clots, and medications to treat headaches and seizures.
▪️ Physical and occupational therapy. These therapies may help with joint stiffness and hip problems to help your child remain active.
▪️ Nutrition. Nutritious, high-calorie foods and supplements can help maintain adequate nutrition.
▪️ Dental care. Dental problems are common in progeria. Consultation with a pediatric dentist experienced with progeria is recommended.
Lifestyle and home remedies.
Here are some steps you can take at home to help your child:
▪️Make sure your child stays well-hydrated. Dehydration can be more serious in children with progeria. Be sure your child drinks plenty of water, especially during an illness, with activity or in hot weather.
▪️ Provide frequent, small meals. Because nutrition and growth can be an issue for children with progeria, giving your child smaller meals more often may help increase calorie intake. Add healthy, high-calorie foods and snacks or supplements as needed.
▪️ Provide opportunities for regular physical activity. Check with your child’s doctor to learn which activities are appropriate for your child.Get cushioned shoes or shoe inserts for your child. The loss of body fat in the feet can cause discomfort.
▪️ Use sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 15. Apply sunscreen generously, and reapply every two hours — or more often if your child is swimming or perspiring.
▪️ Make sure your child is up to date on childhood immunizations. A child with progeria isn’t at increased risk of infection, but like all children, is at risk if exposed to infectious diseases.
▪️ Provide learning and social opportunities. Progeria won’t affect your child’s intellect, so he or she can attend school at an age-appropriate level. Some adaptations for size and ability may be needed.
▪️ Make adaptations. You may need to make some changes at home that enable your child to have some independence and to be comfortable. These can include household changes so that your child can reach items such as faucets or light switches, clothes with special closures or in special sizes, and extra padding for chairs and beds.