Understanding Progeria: Symptoms, Causes, and Treatments

Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS) or Benjamin Button disease, is a rare genetic condition that causes children to age rapidly. Affected individuals typically live to an average age of 13 years. This condition affects people of all sexes and races equally, with about 1 in every 4 million babies born with it worldwide.

What Causes Progeria?

Progeria is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin. When cells use progerin, they break down more easily, causing the rapid aging seen in children with progeria. It is important to note that progeria is not inherited or passed down in families, and researchers have not found any specific risk factors for the condition.

Symptoms of Progeria

Babies with progeria usually do not show any symptoms at birth, but signs of the disease begin to appear during their first year of life. Some of the physical traits associated with progeria include:

• Slow height and weight growth

• A larger head, large eyes, and a small lower jaw

• A thin nose with a "beaked" tip and ears that stick out

• Visible veins and slow, abnormal tooth growth

• A high-pitched voice

• Loss of body fat and muscle, along with hair loss

• Thin, wrinkled skin with spots

As children with progeria get older, they may develop age-related diseases typically seen in people 50 years and older, such as bone loss, hardening of the arteries, and heart disease. It is important to note that progeria does not affect a child's intelligence or brain development, and they are not more susceptible to infections than other children.

Diagnosing Progeria

Progeria symptoms are usually noticeable, and a pediatrician can spot them during routine checkups. If you notice changes in your child that resemble progeria symptoms, make an appointment with your pediatrician or family doctor. They will perform a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child's height and weight to other children of the same age. If your pediatrician suspects progeria, they may refer you to a medical genetics specialist who can confirm the diagnosis with a blood test.

Treatment Options for Progeria

Currently, there is no cure for progeria, but researchers are working to find one. Treatments aim to ease or delay some of the disease's symptoms, and they may include:

• Medication and diet changes to lower cholesterol or prevent blood clots

• Low-dose aspirin to help prevent heart attacks and stroke

• Growth hormone to help build height and weight

• FDA-approved lonafarnib (Zokinvy) to prevent the buildup of defective progerin

• Physical and occupational therapy to help with stiff joints or hip problems

• Coronary bypass surgery or angioplasty to slow the progression of heart disease

At home, it is essential to ensure that children with progeria stay hydrated and eat small, frequent meals to maintain adequate nutrition. Cushioned shoes or inserts can help ease discomfort and encourage physical activity. Sunscreen with an SPF of at least 15 should be used and reapplied every 2 hours to protect their sensitive skin.

Progeria Complications and Similar Conditions

Children with progeria often develop atherosclerosis, which hardens and slows blood flow in the arteries. This condition can lead to heart attacks and strokes, which are the primary causes of death in children with progeria.

Other rare syndromes similar to progeria include Wiedemann-Rautenstrauch syndrome and Werner syndrome. These conditions also cause rapid aging and a shortened life span but tend to be inherited.

For more information on progeria and support for affected families, visit The Progeria Research Foundation.