Progeria in Children: Causes, Symptoms, and Care

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic disorder characterized by rapid aging in children. Although rare, understanding its symptoms and management is crucial to providing affected children the best care possible.

Progeria is caused by a mutation in the LMNA gene, which produces lamin A, a protein crucial for maintaining cell structure. The mutation leads to the creation of a defective protein called progerin, which accelerates cell aging.

• Prevalence: Approximately 1 in 4–8 million live births globally.

• Inheritance: Progeria is not typically inherited; it occurs as a random genetic mutation.

Symptoms usually become noticeable between 6–24 months of age:

1. Growth and Physical Development:

• Delayed weight and height gain.

• Hair loss (scalp, eyebrows, eyelashes).

• Wrinkled, thin, and translucent skin.

2. Distinctive Facial Features:

• Small jaw, thin lips, and beaked nose.

• Prominent eyes and visible veins.

3. Musculoskeletal Issues:

• Joint stiffness.

• Hip dislocations.

• Delayed loss of baby teeth.

4. Cardiovascular Problems:

• Hardening of arteries (atherosclerosis).

• Increased risk of heart attack or stroke.

1. Clinical Evaluation:

• Observation of characteristic physical features.

2. Genetic Testing:

• Confirmation of the LMNA gene mutation.

3. Imaging Tests:

• X-rays to assess bone structure and joint abnormalities.

Although there is no cure for progeria, supportive treatments can improve quality of life:

1. Medications:

• Lonafarnib (Zokinvy): FDA-approved drug that reduces vascular stiffness and delays complications.

• Low-dose aspirin to prevent strokes and heart attacks.

• Cholesterol-lowering drugs and antihypertensive medications.

2. Therapies:

• Physical therapy to maintain mobility and manage joint stiffness.

• Nutritional support to optimize growth.

3. Monitoring:

• Regular cardiovascular checkups to prevent complications.

• Routine evaluations for bone and joint health.

Ongoing clinical trials are exploring gene therapies and additional medications to slow progerin’s effects. The Progeria Research Foundation plays a pivotal role in advancing treatments and offering family support.

Progeria can be emotionally challenging for families. Early diagnosis, regular monitoring, and supportive care can improve a child’s quality of life. Seek psychological support and connect with organizations that specialize in rare genetic disorders.

Explore related articles on the TPZ app, such as “Understanding Genetic Disorders in Children” and “Managing Rare Pediatric Diseases.”