Hutchinson-Gilford Progeria Syndrome: What to Know About the Rare and Fatal Genetic Disorder

Adalia Rose, a 15-year-old YouTube star who had the disease, has died.

Aging is a natural part of life, but there are some conditions that rapidly speed up the process. One of them is called Hutchinson-Gilford progeria syndrome, and it's a rare genetic condition that causes a dramatic appearance of aging that starts in childhood.

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Hutchinson-Gilford progeria syndrome recently made headlines after YouTube star Adalia Rose died of the condition at the age of 15. "January 12, 2022 at 7pm Adalia Rose Williams was set free from this world," reads a post shared on her Instagram account. "She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her."

Williams regularly posted about her condition and life on YouTube, where she built up nearly 3 million followers.

Adalia Rose: The Girl Who Ages Too Fast-Embed-Health-GettyImages-1026919380
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Hutchinson-Gilford progeria syndrome isn't a condition most people are familiar with, and you probably have some questions about what it is and how it affects people. Here's what you need to know.

What is Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome, aka progeria, is a fatal genetic condition that causes children to develop symptoms that resemble premature aging, according to the US National Library of Medicine. It's very rare, affecting one in 4 million newborns around the world.

Hutchinson-Gilford progeria syndrome is caused by a single genetic mutation, per the Mayo Clinic. That particular gene, which is called lamin A (LMNA), makes a protein that's necessary for holding the nucleus of a cell together. When this gene has a mutation, an abnormal form of LMNA called progerin is produced, making cells unstable, and leading to the sped-up aging process.

It's rare for parents to pass this gene down to children, Susan Dulkerian, MD, chair of the Department of Pediatrics and medical director of Newborn Services in The Family Childbirth and Children's Center at Maryland's Mercy Medical Center, tells Health. Instead, it's usually a "new mutation of the gene that was not present in either parent."

There are other conditions that can cause premature aging, but "now that we know the gene that actually causes it, we can definitively diagnose someone with Hutchinson-Gilford by finding the change in the LMNA gene," Caleb Bupp, MD, division chief for genetics at Spectrum Health in Michigan, tells Health.

What are the symptoms of Hutchinson-Gilford progeria syndrome?

People with the condition usually have a normal appearance as babies but, between nine and 24 months, start to show symptoms of the disease. "Early on, in the first couple of years of life, you might get a hint that someone has Hutchinson-Gilford progeria syndrome with a kid that wasn't growing as much and has a distinctive look," Dr. Bupp says. Besides a below-average height and weight, the Mayo Clinic lists these as other symptoms of progeria that give children that "distinctive look":

  • Narrowed face, small lower jaw, thin lips and beaked nose
  • A head that's disproportionately large for the face
  • Prominent eyes and incomplete closure of the eyelids
  • Hair loss, including eyelashes and eyebrows
  • Thinning, spotty, wrinkled skin
  • Visible veins
  • High-pitched voice

"Some pediatricians may spot the physical signs, but most people would not recognize the features of Hutchinson-Gilford progeria syndrome because it's an extremely rare condition," Milen Velinov, MD, PhD, associate professor of pediatrics and chief of the Division of Medical Genetics at Rutgers Robert Wood Johnson Medical School in New Jersey, tells Health. But once doctors do have a suspicion that a child may have Hutchinson-Gilford progeria syndrome, or if they notice that the child is not growing and there's no obvious reason for it, the family "would usually be referred to a geneticist to look for changes in the genes," Dr. Velinov says.

What are the potential complications of Hutchinson-Gilford progeria syndrome?

People with Hutchinson-Gilford progeria syndrome tend to develop the following health issues, according to the Mayo Clinic:

  • Severe progressive cardiovascular disease
  • Hardening and tightening of skin on the torso and extremities
  • Delayed and abnormal tooth formation
  • Some hearing loss
  • Loss of fat under the skin and loss of muscle mass
  • Skeletal abnormalities and fragile bones
  • Stiff joints
  • Hip dislocation
  • Insulin resistance

The condition does not impact a person's intellectual development or motor skills like sitting, standing, and walking, per the US National Library of Medicine.

Hutchinson-Gilford progeria syndrome is a fatal disease. "Most die in their teens from complications of cardiovascular disease," Dr. Dulkerian says. The average life expectancy for someone with the condition is 13 years, though some patients may live up to 20 years, the Mayo Clinic says. South African DJ and artist Leon Botha is believed to have been one of the oldest-living people with progeria, having died in 2011 one day after his 26th birthday.

How is Hutchinson-Gilford progeria syndrome treated?

Unfortunately, Hutchinson-Gilford progeria syndrome can't be cured. Instead, care is "mainly focused on treatment of symptoms—management of cardiovascular disease, physical therapy, and a recently approved medication called lonafarnib," Dr. Dulkerian says.

The US Food and Drug Administration approved lonafarnib for the treatment of Hutchinson-Gilford progeria syndrome in November 2020. It's an oral medication that helps prevent the buildup of defective progerin or progerin-like protein. Research has shown that the lifespan of patients with Hutchinson-Gilford progeria syndrome who take lonafarnib is increased by an average of three months through the first three years of treatment and by an average of 2.5 years through 11 years.

Lonafarnib "gives hope," Dr. Bupp says. "This is a condition that is pretty challening—we know that the lifestpan is capped at 20 years," he continues. "That is heartbreaking. When you have the possiblitiy of finding a treatment for it, it's incredibly exciting."

People with Hutchinson-Gilford progeria syndrome may also be treated with the following, according to the Mayo Clinic:

  • Low-dose aspirin to help prevent heart attacks and stroke
  • Other medications to lower cholesterol and blood pressure and to prevent blood clots
  • Physical and occupational therapy to help with joint stiffness and hip problems
  • Nutritious, high-calorie foods and supplements to maintain weight

But even though there are now these better treatments for Hutchinson-Gilford progeria syndrome, the lifespan of people with the condition is still short. "Unfortunately, progeria patients experience a downhill course that involves many systems of the body, leading inevitably to death at a very young age," Robert Hegele, MD, a professor of medicine at the University of Western Ontario who has researched Hutchinson-Gilford progeria syndrome, tells Health.

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