Thursday, April 4, 2013


Hutchinson-Gilford progeria syndrome (HGPS), also called progeria and premature aging syndrome, is an extremely rare genetic disorder that causes premature aging shortly after birth. Although patients with HGPS have normal intelligence and motor control skills, they have distinct physical features that make them appear older than they really are. This is because a random genetic mutation causes cells in their bodies to die earlier than normal.

Prevalence of Progeria:
It is estimated that HGPS occurs in about one out of eight million births. 
However, some researchers believe the incidence might be closer to one out of four million births because many cases may be undiagnosed or misdiagnosed as other conditions, such as Werner's syndrome (a very rare, autosomal recessive disorder also characterized by premature aging). Only about 100 cases worldwide have been reported in the medical literature.

Characteristics of Progeria:

Children with Progeria are born looking healthy. When they are about 10 to 24 months old, features of accelerated aging start to appear.

Signs and symptoms of Progeria may include:
  • Growth failure during the first year of life
  • Open soft spot (fontanelle)
  • Prominent veins in the scalp
  • Short stature
  • Loss of body fat
  • Loss of hair
  • Skin starts to look aged
  • Stiffness in the joints
  • Hip dislocation
  • Narrow, shrunken or wrinkled face
  • Beaked nose
  • Loss of eyebrows and eyelashes
  • Disproportionately large head
  • Small jaw
  • Dry, scaly, thin skin
  • High-pitched voice
  • Delayed shedding of baby teeth
  • Abnormal tooth formation

Motor and mental development: Motor development and mental development are unaffected by HGPS and have same intellect throughout the life as any other normal human being.

Although they may come from varying ethnic backgrounds, children with Progeria have a surprisingly similar appearance.

Similarity in Progeria and ageing:
Children who suffer from Progeria are genetically susceptible to premature ageing. Children with Progeria commonly experience cardiovascular events, such as hypertension (high blood pressure), stroke, angina, enlarged heart and heart failure - conditions linked to aging which is the most common cause of death in such individuals.

Causes of Progeria:

90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients. 
Progeria appears to occur without cause - it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.

Diagnosis of Progeria:
Early diagnosis of Progeria is very important because prompt treatment and regular medical checkups shall help extend the child's lifespan.
The health care provider will perform a physical exam and order laboratory tests. This may show:
  • Insulin resistance
  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
  • Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
  • Genetic testing can detect changes in the gene that causes progeria.

Prognosis of progeria:
People with Hutchinson-Gilford progeria syndrome (HGPS) may live to be 7-30 years old. On average, most people die at age 13. 
About 90 percent of children with HGPS die from complications related to atherosclerosis.

Complications in Progeria:

  • Atherosclerosis (hardening of the arteries): This leads to cardiovascular abnormalities, including congestive heart failure, heart attacks, and strokes.
  • Malnutrition: Malnutrition is another common complication of HGPS because some infants have difficulty in feeding.
  • Osteoporosis: In this condition, bones become weak, brittle and porous. As a result, children with Progeria may have an increased risk of experiencing bone fractures than healthy children.
  • Hip dislocation: This is usually seen after a few years, making them unable to move.
There is currently no cure for Hutchinson-Gilford Progeria Syndrome.

Treatment hope for Progeria:
New drugs, called farnesyltransferase inhibitors (FTIs), which were originally developed to treat cancer, may help treat HGPS in the future. Early studies have produced promising results. In laboratory and animal studies, these drugs have effectively corrected cell defects that cause HGPS. Specifically, they have been shown to improve nuclear shape by preventing the abnormal protein from reaching the scaffolding of the cell nucleus. However, additional human studies are needed to determine if FTIs are safe and effective for people with HGPS.

Management course for Progeria:
Although there is no specific cure yet, daily care plays a vital role for their quality of life. Proper nutritional, physical, and occupational therapies, along with preventative cardiac and other care are essential.

It is important that patients regularly visit their doctors, especially their cardiologists. These doctors can help patients manage serious cardiovascular complications, such as atherosclerosis.

  • Low-dose aspirin: A daily dose of aspirin may be recommended to help prevent heart attacks and stroke. Children should only take aspirin under the strict supervision of a healthcare professional because serious side effects may occur. 
  • Physical therapy: Physical therapy may be beneficial for children with HGPS because they typically have low muscle tone and experience joint stiffness and hip problems. 
  • High-calorie dietary supplements: High-calorie dietary supplements may be recommended to help prevent weight loss and ensure adequate nutrition 
  • Feeding tube: Some infants with HGPS may have difficulty feeding due to physical abnormalities. In such cases, a feeding tube may be needed to ensure that the child receives proper nutrition. 
  • Removal of baby teeth: A child's permanent teeth might start coming in before the baby teeth have fallen out. If this happens, a dentist usually removes the baby teeth in order to prevent complications, such as overcrowding. 
  • Ayurveda treatments: Upcoming in next post- Ayurveda can help Progeria - Part 2
(P.S: As every human being is different according to Ayurveda, all have different cures. So, kindly consult us or an Ayurveda doctor before taking any herbal medicines.)

This post is written by Dr.Jaina Patwa who is a Chief Ayurvedic practitioner based at Vile Parle, Mumbai, India. She is available as an online Ayurvedic Consultant on Skype. Skype ID - vishwacare

VishwaCARE offers Ayurvedic treatment globally for all chronic and refractory health problems. Dr.Jaina Patwa uses high quality organic herbal extracts which are easy to take, effective and completely safe for long-term use.

For authentic ayurveda treatments or queries, kindly email us on or contact us on +919833998817


  1. These approaches include Maharishi Panchkarma program, diet, herbs & minerals, rasayanas, pulse diagnosis and Transcendental Meditation. for more information visit: Maharishi Ayurveda Hospital


  2. Angina also can be a symptom of coronary microvascular disease (MVD). This is heart disease that affects the heart’s smallest

    coronary arteries. In coronary MVD, plaque doesn't create blockages in the arteries like it does in CHD. Studies have shown

    that coronary MVD is more likely to affect women than men. Coronary MVD also is called cardiac syndrome X and nonobstructive

    CHD. So we give to you Home

    Remedies For Angina
    . Take care.


  3. The main treatment for atherosclerosis is lifestyle changes. You also may need medicines and medical procedures. These

    treatments, along with ongoing medical care, can help you live a healthier life. So we give you the Best Home Remedies For Arteriosclerosis

    which is more effectively than others. We are here to assist you.