The accelerated aging disease.
By Jenny Ewen, BA, NREMT
The concept of accelerated aging sounds like it belongs in movies, but there is a rare and fatal condition that is recognized by its main symptom: accelerated aging in young children. Hutchinson-Gilford Progeria Syndrome (also called Progeria or HGPS) was first written about in England in the nineteenth century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.
This condition is genetic, and is caused by a mutation in the gene LMNA, which produces Lamin A protein, forming the structure that holds the cell nucleus together. When these proteins are not functioning properly (specifically the protein called progerin), the nucleus of the cell becomes unstable and leads to the premature aging process.
A baby that has progeria is born with normal features, but the accelerated aging becomes apparent during the first year of life. Most children diagnosed with progeria only live to be about 13 years old, due to heart problems or strokes (typically associated with aging). Some can live up to 20 years.
While progeria is based in the genes, it is not hereditary, happens very rarely (about one in four million babies have it), and almost always just by a chance occurrence. Another two conditions also considered progeroid syndromes that cause rapid aging are Wiedemann-Rautenstrauch syndrome (with rapid aging starting in the womb) and Werner syndrome (rapid aging begins as a young adult), and both of these conditions do run in families.
Signs and Symptoms
The main signs are physical, since the condition causes rapid aging:
- Below-average height and weight
- Large head in comparison to the face
- Face is narrow with a small jaw and thin lips
- Eyelids don’t close completely
- Hair loss (including facial hair loss such as eyelashes and eyebrows)
- Wrinkled, thin, and spotty skin with veins that are easily visible
- Higher-pitched voice
There are also internal health issues associated with progeria as a result of the accelerated ages - typically health issues that show up in much older people. Children with progeria may have cardiovascular disease, scleroderma (hardening and tightening of the skin), hearing loss, loss of subcutaneous body fat and overall muscle mass, fragile bones with stiff joints, hip dislocation, insulin resistance, and dental issues such as abnormal tooth formation.
Most often, children with progeria die as a result of complications with the blood vessels that supply the heart (causing a heart attack and congestive heart failure) or problems with the blood vessels supplying blood to the brain, causing a stroke.
Symptoms of aging such as cancer, arthritis, or cataracts typically don’t occur in a case of progeria.
Diagnosis and Treatment
Typically, a doctor will begin to suspect progeria at an appointment with the baby/child due to the physical signs and symptoms associated with the condition. There is a genetic test that identifies LMNA mutations, which will confirm the diagnosis after a physical exam looking for signs and symptoms, checking vitals, measuring height/weight, and checking hearing and vision.
Unfortunately, there is no cure for progeria. There are only treatments to ease the signs and symptoms: taking aspirin every day to lower risk of heart attacks and stroke, medications to lower blood pressure/cholesterol and prevent clots, physical therapy to help with joint stiffness and keeping up the child’s activity level, and ongoing dental care.
Lifestyle treatments include a carefully monitored diet to ensure proper calorie amount and nutrition for health, along with adequate hydration. Sunscreen is highly recommended when any time is spent in the sun to protect the fragile skin. Often shoe pads are recommended due to the lack of body fat causing discomfort.
Researchers are currently working to better understand genes and how progeria progresses in order to find better treatments, and researching if certain cancer treatments could help treat progeria.
Sources and More Information
Mayo Clinic, “Progeria” https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038
Progeria Research Foundation, “About Progeria” https://www.progeriaresearch.org/about-progeria/
U.S. National Library of Medicine, Genetics Home Reference, “Hutchinson-Gilford Progeria Syndrome” https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#statistics
U.S. Department of Health & Human Services, National Center for Advancing Translational Sciences - Genetic and Rare Diseases Information Center, “Progeria” https://rarediseases.info.nih.gov/diseases/7467/progeria
More from The Allied Times
Clean Hands In a time of necessary infection prevention, this is how doctors wash their hands.By Marven Ewen, MDMedical DirectorCurrently, the COVID-19 pandemic is a reminder of the importance of infection control. Handwashing is the most important part of preventing the spread of infection. The CDC recommends 20 seconds of handwashing with soap and water…
Huntington’s DiseaseThe genetic brain disease that has no cure.By Jenny Ewen, BA, NREMTEditor-In-ChiefOverviewHuntington’s disease is an autosomal dominant genetic disease causing a breakdown of nerve cells in the brain, resulting in decline of a person’s physical and mental abilities. Most commonly, Huntington’s disease emerges during adulthood when someone is in their 30s or 40s. When…
Calcaneal FractureOne of the bones you really don’t want to break.By Marven Ewen, MDMedical DirectorI was seeing a middle-aged tradesman. He told me how he misjudged the last couple of steps of the ladder and ended up dropping onto his right foot with his knee in a fully extended position. He was wearing stiff boots…
HemophiliaThe disorder that causes unstoppable bleeding.By Jenny Ewen, BA, NREMTEditor-In-ChiefA Little Bit of HistoryIn 1837-1901, Queen Victoria of England ruled and was believed to have passed on the traits of hemophilia B to three of her nine children. Her daughters then passed it on to their children, one of whom married Tsar Nicholas of Russia,…
Bell’s PalsyA look at a case of Bell’s Palsy.By Marven Ewen, MDMedical DirectorThe patient was 34-years-old and well into her third pregnancy. She came to the ER concerned that she was having a stroke. Her pregnancy and general health had been unremarkable until she awoke this morning. Something didn’t seem right about the right side…
Celiac DiseaseThe most serious reason to request “gluten-free” food.By Jenny Ewen, BA, NREMTEditor-In-ChiefOverviewThere has been a trend towards gluten-free food options over the last decade, but while some people avoid gluten simply for a healthier diet or weight loss, others have to avoid it to the degree that even a crumb of regular bread from…