Progeria

Preventive, supportive care and close monitoring can improve quality of life, and perhaps lifespan, in children with Hutchinson-Gilford Progeria Syndrome (HGPS). In addition to the summary here, we recommend downloading this detailed handbook published by the Progeria Research Foundation.

Cardiovascular disease

Cardiovascular disease – leading to heart attacks and strokes—is the most serious concern in a child with progeria. We recommend that children with progeria be monitored closely by a pediatric cardiologist. Tests often used include:

• Measurement of fasting lipids and glucose

• Blood pressures of arms and legs

• Electrocardiogram (ECG)

• Echocardiogram

• Carotid duplex ultrasound*, if available

• Pulse wave velocity, if available

• Imaging of the brain to monitor for abnormalities such as silent strokes, new vessel formation in the brain, or vessel narrowing. This often is done with a magnetic resonance imaging study (MRI).

To reduce the risk for heart attack and stroke, physicians may choose to use low-dose aspirin, such as chewable baby aspirin, even if the child does not yet have symptoms or risk factors for heart disease.  This treatment is known to be helpful in adults with cardiovascular disease.

Bone and joint disease

• Children with progeria do not appear to have a greater risk of broken bones, but yearly measurements of whole-body bone density are recommended. Doctors may also order a quantitative computed tomography scan to look at bone structure and assess fracture risk.

• Many children with progeria suffer from joint pain and hip osteoarthritis. Most do well with over-the-counter analgesics, anti-inflammatory medications and physical therapy to restore range of motion and muscle strength (see next section). If pain is severe, the child may need to see an orthopedic specialist to help prevent more serious problems like hip dislocation.

• Some children may eventually have difficulty walking, requiring them to use a walker or wheelchair.

Children with progeria can maintain their bone health through:

• Weight-bearing activities (i.e., walking, running, jumping) to maintain bone mineral density, if the child is not too frail

• Diets with plenty of calcium and vitamin D, which helps the body absorb calcium (see Nutrition below).

Physical therapy

Most children with progeria should be evaluated by a qualified physical therapist (PT) and participate in a home exercise program. Three treatment sessions a week with a physical therapist are ideal.

• A PT evaluation can assess a child’s range of motion and muscle length, muscle performance, posture, pain, gait, locomotion, balance, self care and home management, neuromotor development, sensory integrity, community participation and the need for assistive devices and orthotics.

• PTs can also help families locate appropriate physical activity programs, such as local swimming classes with qualified instructors.

In addition to physical therapy, yearly assessments by a pediatric occupational therapist (OT) can be helpful for evaluating a child’s coordination, functional skills, visual perception and visual-motor skills.

Nutrition

Some time within the first year of life, children with progeria start falling off the typical growth curves that pediatricians use. They start losing their appetites and grow much more slowly than their peers. This is very alarming, but know that children with progeria do gain weight and height, but at a slow, steady rate that is different from their peers.

• To help children maintain their weight, meals and snacks should incorporate healthy, high-calorie foods such as healthy oils, nuts, avocado, milk powder and yogurt, but also other healthy foods like whole grains, lean meat, poultry and fish, and lots of fruits and vegetables.

• Nutritional drinks (such as Pediasure®, Ensure®, Boost®) as well as shakes and smoothies can be helpful for adding calories and nutrients.

• To maintain bone health, 1000-2000 mg/day of calcium is recommended—the equivalent of three to four cups of milk—plus at least 400 IU of vitamin D per day.Vitamin D supplements (found in a children’s multivitamin tablet) can provide the necessary amount when diet alone can’t.

• Though families should consult their home medical team, artificial feeding tubes like nasogastric or G-tubes generally have not been more effective than oral nutritional supplementation for children with progeria.

Dental care

One of the most important things you can do is establish a relationship with a pediatric dentist by the time your child is 1, or when the first tooth erupts. Children with progeria are at increased risk for cavities, failure of baby or adult teeth to grow in, crowding of the teeth, jaw problems and gum disease. As with all children, we recommend children with progeria see a dentist at least twice per year.

Skin care

Skin in children with progeria is often tight and can get dry and itchy. Gentle cleansers and over the counter creams sometimes help with this. It is recommended that families see a dermatologist for dryness and itching.

Foot care

Children with progeria often have foot problems that can cause calluses, blisters, heel discomfort, and pain on walking. Home treatment of calluses with moleskin or other padding, shoe inserts and slippers and general massages with moisturizing lotions can alleviate pain.

An annual evaluation by a podiatrist is recommended to address abnormal gait and arrange for custom shoe inserts.

(Adapted from information compiled by the Progeria Research Foundation. For more detailed information, see the Foundation’s handbook.)