Progeria Disorder – Meaning, symptoms, causes, 7 limitations, diagnosis, treatment and Life Expectancy
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Progeria Disorder, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder that causes rapid ageing in children. This post provides an overview of Progeria Disorder, its symptoms, causes, limitations, diagnosis, treatment and Life Expectancy.
What Is Progeria?
Progeria, also referred to as Hutchinson-Gilford syndrome or Benjamin Button disease, is an uncommon hereditary disorder that results in the accelerated ageing of a child’s body.
Progeria is a condition that affects individuals of all genders and ethnicities equally.
Progeria causes children to appear older than they are. Most victims suffer hair loss and have a frail body structure. Progeria is a rare condition and is regular among children and young adults.
Although the life expectancy of children with progeria is quite short, they are accounts of people who have lived beyond that.
Who Discovered Progeria?
Jonathan Hutchinson was the first to document the clinical features of a 6-year-old boy with congenital absence of hair and skin atrophy in 1886.
Dr Hastings Gilford later studied this patient and another, identifying it as a clinical entity in 1897 and naming it “progeria” from the Greek word “prematurely old”.
The most severe type of the disease is called Hutchinson-Gilford progeria syndrome, named after the contributions of both doctors.
How Rare Is This Condition?
It is estimated that approximately one in every four million newborns worldwide are born with this disorder.
How Is Progeria Inherited?
Hutchinson-Gilford progeria syndrome is typically not inherited from parents to their offspring. Instead, it is commonly the result of a new spontaneous mutation that occurs during the early cell division of the child. This syndrome is typically characterized by genetic dominance, meaning healthy parents usually do not transmit it to their children.
Symptoms Of Progeria
Children with Progeria usually appear normal during the early stages of their lives, but they tend to grow slower than other children and do not gain weight as expected.
The following are clear symptoms of Progeria.
- Rapid ageing
- Frail body
- Hair loss, which includes the loss of eyelashes and eyebrows.
- Reduced development, resulting in smaller than average stature and body mass.
- The person’s face is slender, with a small jaw, thin lips, and a nose that is curved like a beak.
- Distinctive facial appearance
- voice with a high frequency or pitch
- The head appears to be larger in comparison to the face.
- Skin that has become less dense has spots and wrinkles.
- Noticeably protruding eyes and inadequate eyelid closure.
- Obvious veins
Causes Of Progeria
Progeria, a disease that advances gradually, is caused by a solitary genetic mutation. The occurrence of this condition is due to a genetic mutation in the LMNA gene, which results in the production of an unusual form of lamin A protein called progerin.
The LMNA gene is involved in this disorder, which maintains the cell nucleus’ structural stability. The protein becomes flawed due to the mutation, causing instability in the nucleus.
In other words, Progeria is caused by a single gene mutation that affects the LMNA gene, which is responsible for producing the protein that keeps the cell nucleus intact, known as lamin A. The LMNA gene mutation develops a defective form of lamin A protein called progerin that makes the cells unstable, leading to the ageing process associated with progeria.
The genetic mutation that causes progeria is not commonly inherited within families and usually occurs randomly.
Some of the limitations of progeria are:
- Cardiovascular problems: Children diagnosed with progeria commonly experience cardiovascular issues, including atherosclerosis, where the arteries become hardened and constricted. This can potentially result in heart attacks and strokes.
- Growth and development issues: Children diagnosed with progeria encounter challenges related to growth and development, including factors like impaired growth and delayed developmental milestones.
- Joint stiffness and pain: Children diagnosed with progeria commonly encounter joint stiffness and discomfort, which can impede their mobility and hinder their ability to engage in everyday tasks.
- Vision and hearing problems: Progeria can give rise to vision and hearing impairments, impacting a child’s learning and communication capabilities.
- Increased risk of cancer: Children with progeria are most prone to developing cancer.
- Shortened lifespan: The average lifespan of a child with progeria is around 14 years, although some children have lived into their 20s.
- Emotional and psychological impact: The typical life expectancy of a child with progeria is approximately 14 years, although there have been cases where some children have lived into their 20s.
Types Of Progeria
Progeria has two primary forms, one identified during infancy or early childhood, while the other identified during adolescence or early adulthood.
The two major types of Progeria disorder are:
- Hutchinson-Gilford progeria syndrome (HGPS)
- Werner Syndrome (Adult Progeria)
Progeria In Adults
Werner syndrome, which is also referred to as adult progeria, is a genetic condition that is rare and autosomal recessive. It is characterized by the early onset of ageing symptoms in the third decade of life.
These symptoms include thinning and greying scalp hair, bilateral cataracts, skin disorders, and early onset of age-related diseases. On the other hand, Gottron’s syndrome is a milder form of progeria inherited and characterized by small hands and feet with delicate skin. Those with Werner syndrome have a slower growth rate and stop growing after puberty.
Progeria is typically detected during routine checkups in infancy or early childhood when the distinctive signs of premature ageing become apparent.
Healthcare providers may suspect progeria based on symptoms and perform a thorough physical exam, which includes
- measuring height and weight,
- plotting growth on a curve chart,
- testing hearing and vision,
- taking vital signs like blood pressure
- looking for visible symptoms of progeria.
Prenatal testing is also available to detect the LMNA gene mutation that causes progeria in the fetus.
Treatment And Management:
Progeria cannot be cured, but some treatments may alleviate symptoms or slow down the progression of the disease. One such treatment is lonafarnib (Zokinvy), an oral medicine medication originally developed for cancer treatment. It can help prevent the buildup of faulty progerin and progerin-like proteins in cells, slowing down symptoms’ progression.
Lonafarnib has been shown to improve various aspects of progeria and has extended the average survival rate of children with the disease by 2.5 years.
Depending on the child’s condition and symptoms, various therapies can also help ease or delay some of the symptoms of progeria. Low-dose aspirin may be prescribed to prevent heart attacks and strokes.
Other medicines may be needed to treat complications, such as dietary therapy, blood thinners, and drugs to treat headaches and other symptoms. Physical and occupational therapy can help with joint stiffness and hip problems, while nutritional supplements provide extra calories.
Hearing aids, eye and vision care, and dental care may also be required to treat various symptoms.
Various ways of living and natural treatments can assist in aiding your child.
- It’s important to ensure that your child consumes adequate water, as dehydration can be more severe in children with progeria.
Dehydration occurs when the body lacks sufficient water and other fluids to perform regular functions. As such, ensuring your child drinks plenty of water and other liquids, particularly during illness, physical activity, or hot weather, is essential.
- To help with the nutrition and growth concerns children with progeria may face, offering them numerous small meals throughout the day is recommended.
This can help increase the calorie intake by adding healthy, high-calorie foods and snacks as required. You should consult your healthcare provider about nutritional supplements and consider scheduling appointments with a registered dietitian to enhance your child’s diet.
- Encourage your child to engage in physical activities regularly and seek advice from their healthcare provider to determine which activities are safe and beneficial.
- Consider purchasing shoes that have adequate padding or insoles for your child. The reduction of fatty tissue in their feet can result in discomfort, so it’s important to take precautions.
- It is recommended to apply sunscreen to your child’s skin. Choose a broad-spectrum sunscreen with a minimum SPF of 30 and apply it generously. Ensure to reapply the sunscreen every two hours. If your child is sweating or swimming, it is advisable to apply sunscreen more frequently.
- Ensure that your child has received all the recommended childhood vaccinations. Although a child with progeria is not more susceptible to infection, it is important to note that, like all children, your child is vulnerable to infectious diseases if they come into contact with them.
- Offer educational and social activities for your child. Progeria will not impact your child’s cognitive abilities. Your child can attend school based on their age level, although certain accommodations for physical size and ability might be necessary.
- Alter your home environment to promote self-sufficiency. It might be necessary to modify your household to enable your child to feel at ease and achieve independence. For instance, you can implement measures to help your child reach objects like light switches or faucets.
Additionally, you may need to purchase clothes with unique fastenings or sizes to accommodate their body shape. Adding extra padding to chairs and beds can enhance your child’s comfort.
Prognosis And Life Expectancy:
Progeria is a medical condition that results in premature death, typically occurring in the teenage years of affected individuals. The primary cause of death is often related to cardiovascular issues such as heart disease or stroke.
While the average life expectancy for those with progeria is approximately 14 years, there have been rare cases where individuals have survived into their 20s.
Tiffany Wedekind, a resident of Columbus, Ohio, is currently the oldest known progeria survivor, having reached 45 as of 2023.
Progeria is an uncommon genetic condition that causes children to age rapidly and has a range of symptoms. As it profoundly affects those who have it and their families, it is vital to keep researching and raising awareness. More research could lead to discovering potential treatments and ways to enhance the lives of children with progeria.
Raising awareness about this condition could also make diagnosing early, obtaining specialized care, and supporting those affected and their families easier.