Definition
Progeria or Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder which causes children to age rapidly. The first signs of this disorder can be seen as early as within two years of life of the child. When born, children with Hutchinson-Gilford Progeria Syndrome appear normal without any issues but as they start to grow within the first year of life symptoms start to appear with gradual loss of hair and slow progression of growth. This condition progresses rapidly to such an extent that a 13 year old child will have the appearance of a 60-year-old elderly man. The root cause of Hutchinson-Gilford Progeria Syndrome is mutation in gene Lamin-A.
This gene produces protein that holds the nucleus of the cell together. When there is a defect in this gene it makes the cell unstable causing a rapid increase in the aging process of the child. As of now, there is no cure for this condition and a child with Hutchinson-Gilford Progeria Syndrome in majority of the cases survives at maximum till 14 years of age before succumbing to cardiovascular issues and strokes which are a complication of Hutchinson-Gilford Progeria Syndrome.
Effects of progeria
History
In 1886, Hutchinson described the first patient with HGPS, a 6-year-old boy whose overall appearance was that of an old man. During 1887, Gilford described a second patient with similar clinical findings and in 1904, he published a series of photographs depicting the clinical manifestations of progeria at different ages. To date, approximately 100 patients with HGPS have been described in the literature.
Epidemiology
A study from the Netherlands has shown an incidence of 1 in 4 million births. Currently, there are 80 known cases in the world. Approximately 140 cases have been reported in medical history.
Classical Hutchinson-Gilford Progeria Syndrome is usually caused by a sporadic mutation taking place during the early stages of embryo development. It is almost never passed on from affected parent to child, as affected children rarely live long enough to have children themselves.
There have been only two cases in which a healthy person was known to carry the LMNA mutation that causes progeria. These carriers were identified because they passed it on to their children. One family from India has five children with progeria, though not the classical HGPS type; This family was the subject of a 2005 Bodyshock documentary entitled The 80 Year Old Children. Another family from Belgium has two children with progeria.
The first reported case of a black African child with progeria was identified in September, 2011. The South African child, named Ontlametse Phalatse, was born in 1999. The Progeria Research Foundation at Children’s Hospital Boston, affiliated with the Harvard University Medical School, is treating her and monitoring her case.
Types
The most common type of progeria syndrome is Hutchinson-Gilford progeria syndrome. It’s a rare and fatal genetic disorder. Wiedemann-Rautenstrauch syndrome is another type of progeria syndrome. It appears in children while they’re still in utero.
The adult version of progeria syndrome is Werner syndrome. The symptoms of Werner syndrome normally occur in teenagers. People with this condition may live into their 40s or 50s.
Causes of Progeria
Genetic mutation: In 2003, researchers discovered that a mutation in the lamin A (LMNA) gene causes Hutchinson-Gilford progeria syndrome (HGPS). Normally, this gene provides the body with instructions on how to make proteins that hold the center of cells (called the nucleus) together. When this gene is mutated, one of these proteins, called lamin A, is not produced properly. As a result, the cells in the body are unstable and the nuclei become damaged over time. This makes the cells more likely to die prematurely and leads to symptoms of progeria. Cells in areas of the body that are frequently exposed to physical forces, either from inside or outside of the body (such as the cardiovascular and musculoskeletal systems), are particularly vulnerable to premature cell death.
Random occurrence: HGPS is not an inherited condition that is passed down from parents to their children. Instead, mutations in the LMNA gene randomly occur during the development of the sperm or egg. Therefore, people who have a child with progeria do not have an increased risk of having another child with the condition.
Symptoms
A newborn with progeria looks healthy, but by the age of between 10 months and 24 months, features of accelerated aging start to appear.
Signs of progeria include:
- Limited growth and short stature
- Lack of body fat and muscle
- Loss of hair, including eyelashes and eyebrows
- Early signs of skin aging, including thin skin
- Stiffness in the joints
- Visible veins
- Stroke
- Narrow, wrinkled, or shrunken face
- A head that is large compared with the body
- A small jaw bone
- Slow and abnormal tooth development
- A high-pitched voice
- Limited range of motion and possible hip dislocation
- Generalized atherosclerosis, leading to cardiovascular and heart disease
Progeria complication
Atherosclerosis (hardening of the arteries): Children with HGPS typically develop a condition called atherosclerosis, which occurs when the walls of the arteries become hard and thick.
Malnutrition: Malnutrition is another common complication of HGPS because some infants have difficulty feeding.
Osteoporosis: Patients with HGPS have an increased risk of developing progeria, a condition that causes the bones to become weak, brittle, and porous. As a result, children with progeria may have an increased risk of experiencing bone fractures than healthy children.
Diagnosis and tests
- Since the symptoms are very noticeable, it’s likely that your child’s pediatrician will spot them during a routine checkup.
- If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child’s height and weight to other kids the same age.
- Afterward, if your pediatrician is concerned, you may need to see a specialist in medical genetics, who can confirm the diagnosis with a blood test.
Treatment and medications
- There is no cure for progeria, but occupational and physical therapy can help the child keep moving if their joints are stiff.
- Heart health is critical for people with progeria, so the doctor may prescribe statins, nitroglycerin for angina, and routine therapy for congestive heart failure.
- Eating healthily and getting regular exercise are important.
- Some patients may have cardiac surgery to slow the progression of heart disease.
- Self-care tips may include eating different foods when the lipid, or fat, profile begins to change, and eating small meals regularly to maximize calorie intake.
- Sun screen is important for protecting the skin, and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body.
- our child’s doctor may prescribe drugs to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight.
- At this time, there’s no cure for progeria, but researchers are working on finding one. A kind of cancer drug, FTIs (farnesyltransferase inhibitors), may fix the damaged cells.
Prevention of Progeria
There is no evident prevention for progeria since progeria is still a relative unknown and mysterious disease. However, it has been recently discovered that FTIs, a drug that has a possibility to help cure progeria, might also be able to prevent the misshapen nuclei in progeria cells. After experiments, it showed that this drug was effective because it prevented the abnormal protein from reaching the scaffolding of the cell nucleus.