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Hutchinson-Gilford progeria syndrome (HGPS)

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Related Terms
  • Atherosclerosis, farnesyltransferase inhibitors, FTI, HGPS, high-calorie dietary supplements, Hutchinson-Gilford progeria syndrome, Hutchinson-Gilford syndrome, lamin A, LMNA, premature aging, premature aging syndrome, progeria, progeria of childhood.

Background
  • 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.
  • Symptoms, such as slowed growth, hair loss, and loose, aged-looking skin, typically develop when the child is six months to two years old. In addition, children with HGPS typically develop a condition called atherosclerosis, which occurs when the walls of the arteries become thick and hard.
  • There are several different forms of progeria, but the classic and most common type is HGPS. This disorder was named after two physicians from England, Dr. Jonathan Hutchinson, who first described it in 1886, and Dr. Hastings Gilford, who first described it in 1897.
  • 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.
  • There is currently no cure for HGPS, and a person's prognosis is generally very poor. People with 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.

Signs and symptoms
  • General: Symptoms of Hutchinson-Gilford progeria syndrome (HGPS) typically develop when the child is six months to two years old. During this time, the child grows much slower than children of the same age, in terms of height and weight.
  • Physical features: Children with HGPS also have distinct physical features, including a narrowed faced and beaked nose, which makes the child look older. Other symptoms typically include hair loss (including the eyebrows and eyelashes), hardening and tightening of the skin (called scleroderma), a disproportionately large head, loose skin that looks old and weathered, prominent veins in the scalp, small lower jaw, high-pitched voice, delayed shedding of baby teeth, abnormal tooth formation, stiff joints, hip dislocations, and loss of body fat and muscle (which leads to weight loss).
  • Motor and mental development: Motor development and mental development are unaffected by HGPS and remain normal throughout the person's life.

Diagnosis
  • Genetic testing: If Hutchinson-Gilford progeria syndrome (HGPS) is suspected (usually when the child is 6-24 months old), a genetic test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for a mutation in the lamin A (LMNA) gene.
  • Before genetic testing was available, doctors diagnosed the condition solely on the patient's physical symptoms. Therefore, genetic testing allows doctors to diagnose HGPS at an earlier age, before all of the characteristic symptoms are seen. Early diagnosis is important because prompt treatment and regular medical checkups help extend the child's lifespan.

Complications
  • General: 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.
  • 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. Atherosclerosis may limit blood flow to the heart, brain, or other parts of the body. When vital organs do not receive enough blood, they can fail. For instance, if blood flow to the heart is blocked, it causes a heart attack. If blood flow to the brain is blocked, it causes a stroke. Most children with HGPS die from cardiovascular abnormalities, including congestive heart failure, heart attacks, and strokes.
  • 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.

Treatment
  • General: There is currently no cure for Hutchinson-Gilford progeria syndrome (HGPS). Treatment may help reduce symptoms and help prolong a child's life. 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. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions. A therapist may also teach parents or caregivers how to exercise a baby's muscles.
  • High-calorie dietary supplements: High-calorie dietary supplements may be recommended to help prevent weight loss and ensure adequate nutrition. Supplements should be taken under the supervision of a healthcare professional. A pediatrician may also recommend a nutritionist to help ensure that the child is receiving the proper vitamins and minerals.
  • 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.
  • New drugs: 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.

Integrative therapies
  • Note: Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Hutchinson-Gilford progeria syndrome (HGPS). However, some therapies have been studied as a way to treat or prevent atherosclerosis, a common complication of HGPS. It is important to note that these studies did not include HGPS patients, and few trials have evaluated the safety of herbs and supplements in children. Parents should talk to their childrens' pediatricians before using integrative therapies.
  • Good scientific evidence:
  • Niacin: Niacin is a B-complex vitamin found in a many foods, such as liver, poultry, fish, nuts, and dried beans. It is needed for the nervous system and gastrointestinal tract function. Vitamin B3 is made up of niacin (nicotinic acid) and niacinamide. Niacin decreases blood levels of cholesterol and lipoprotein (a), which may reduce the risk of atherosclerosis ("hardening" of the arteries). However, niacin can also increase homocysteine levels, which may have the opposite effect. Overall, the scientific evidence supports the use of niacin in combination with other drugs (but not alone) to decrease cholesterol and slow the progression of atherosclerosis. More research is needed in this area before a firm conclusion can be made.
  • Avoid niacin/vitamin B3 if allergic to niacin or niacinamide. Avoid with a history of liver disease, liver dysfunction, irregular heartbeats (arrhythmia), heart disease, blood clotting, bleeding disorders, asthma, anxiety, panic attacks, thyroid disorders, stomach ulcers, gout, or diabetes. Avoid if pregnant or breastfeeding.
  • Unclear or conflicting scientific evidence:
  • Alfalfa: Alfalfa has a long history of dietary and medicinal use. Alfalfa is usually taken by eating part of the plant. Several studies in animals report reductions in cholesterol plaques of the arteries after use of alfalfa. Well-designed research in humans is needed to determine if alfalfa is an effective treatment for atherosclerosis.
  • Avoid if allergic to alfalfa, clover, or grass. Avoid with a history of lupus, thyroid disease, gout, blood clots, seizures, liver disease, or kidney disease. Use cautiously with stroke, hormonal conditions (e.g. breast tenderness, breast cancer, ovarian cancer, or menstrual problems), or diabetes. Avoid if taking drugs that increase the risk of bleeding (e.g. aspirin, aspirin products, or warfarin) or ibuprofen. Do not use two weeks before and immediately after any surgery/dental/diagnostic procedures that may have bleeding risks. It has been reported that alfalfa may be contaminated with dangerous bacteria (e.g. E. coli, Salmonella, or Listeria). Avoid if pregnant or breastfeeding.
  • Aortic acid: Aortic extract is typically manufactured from the hearts of animals, usually sheep, cows, or pigs. There are several constituents in aortic acid, but mesoglycan has been studied the most. Mesoglycan is a structural component of cardiovascular vessels and organs. One preliminary study indicates that mesoglycan supplements may reduce blood vessel thickening. However, additional research is needed in this area.
  • Allergic reactions to aortic acid have not currently been reported in the available literature. Due to the heparin sulfate content of mesoglycan, patients who are allergic to heparin or heparinoid derivatives should use aortic acid cautiously. Use cautiously with blood disorders or if taking anticoagulants. Use cautiously with high blood pressure or if taking blood pressure-lowering drugs. Avoid if pregnant or breastfeeding.
  • Ayurveda: Ayurveda is an ancient form of natural medicine that originated in India more than 5,000 years ago. Ayurveda is an integrated system of techniques that use diet, herbs, exercise, meditation, yoga, and massage or bodywork to achieve optimal health. In India, Ayurveda involves the eight principal branches of medicine: pediatrics, gynecology, obstetrics, ophthalmology, geriatrics, otolaryngology (ear, nose, and throat), general medicine, and surgery. Evidence suggests that carotid intima-media thickness (IMT), a measure of atherosclerosis, may be reduced with a comprehensive program including diet, exercise, stress reduction, and a combination herbal formula (Maharishi Vedic Medicine), particularly in patients with a marked congenital heart disease (CHD) risk.
  • Ayurvedic herbs can interact with other herbs, foods, and drugs. A qualified healthcare professional should be consulted before taking. Some herbs imported from India have been reported to contain high levels of toxic metals. Avoid Ayurveda with traumatic injuries, acute pain, advanced stages of disease, or medical conditions that require surgery.
  • Bilberry: Bilberry is an herb made from the berries of a small deciduous shrub. Bilberry has been used traditionally to treat heart disease and atherosclerosis. There is some laboratory research in this area, but evidence in humans is currently lacking in the available literature.
  • Avoid if allergic to plants in the Ericaceae family or to anthocyanosides (a component of bilberry). Avoid with a history of low blood pressure, heart disease, bleeding, diabetes, blood clots, or stroke. Avoid if pregnant or breastfeeding. Stop use two weeks before and immediately after surgeries/dental or diagnostic procedures with bleeding risks.
  • Copper: Copper is a mineral that occurs naturally in many foods, including vegetables, legumes, nuts, grains, fruits, shellfish, avocado, beef, and animal organs. The effects of copper intake or the effects of blood copper levels on cholesterol, atherosclerosis (cholesterol plaques in arteries), or coronary artery disease remain unclear. Studies in humans are mixed, and further research is needed in this area.
  • Avoid if allergic or hypersensitive to copper. Avoid use of copper supplements during the early phase of recovery from diarrhea. Avoid with a high amount of copper in the blood (hypercupremia), genetic disorders affecting copper metabolism (e.g. Wilson's disease, Indian childhood cirrhosis, or idiopathic copper toxicosis), or HIV/AIDS. Use cautiously with water containing copper concentrations greater than six milligrams per liter. Use cautiously with anemia (low red blood cell count), arthralgias (painful joints), or myalgias (muscle pain). Use cautiously if taking oral contraceptives. Use cautiously if at risk for selenium deficiency. Pregnant and breastfeeding women should not consume doses that exceed the recommended dietary allowance (RDA).
  • Garlic: The garlic bulb is made up of many garlic cloves that are wrapped in a paper-thin, white skin. It is used both medicinally and as a spice in food. Preliminary research in humans suggests that deposits of cholesterol in blood vessels may not grow as quickly in people who take garlic. It is unclear if this is due to the ability of garlic to lower cholesterol levels or to other effects of garlic.
  • Avoid if allergic or hypersensitive to garlic or other members of the Lilaceae(lily) family (e.g. hyacinth, tulip, onion, leek, or chive). Avoid with a history of bleeding problems, asthma, diabetes, low blood pressure, or thyroid disorders. Stop using supplemental garlic two weeks before and immediately after dental/surgical/diagnostic procedures with bleeding risks. Avoid in supplemental doses if pregnant or breastfeeding.
  • Horny goat weed: Horny goat weed has traditionally been used to treat cardiovascular disease. Early study suggests that horny goat weed may improve symptoms associated with ischemic cardio-cerebral vascular diseases, including atherosclerosis. However, additional study is needed before a firm recommendation can be made.
  • Avoid if allergic/hypersensitive to horny goat weed (Epimedium grandiflorum), its constituents, or related plants in the Berberidaceae family. Use cautiously with tachyarrhythmia, decreased blood pressure, frequent nosebleeds, musculoskeletal disorders, bipolar disorder, immune function disorders, homocysteine disorders, hypothyroid conditions, and cardiovascular disease. Use cautiously if taking anticoagulants or antiplatelet (blood thinning) medications, antihypertensive (blood pressure) medications, antidepressants (MAOIs), interleukins, or cholesterol-lowering medications. Avoid with hormone-sensitive conditions or if taking estrogen or oral contraceptives. Chinese herbalists recommend that it be avoided in patients with "fire from yin deficiency" (people with too much "yang" or heat, masculinity, and activity, based on Chinese philosophy). Avoid if pregnant or breastfeeding.
  • Lutein: Lutein and zeaxanthin are found in high levels in foods, such as green vegetables, egg yolk, kiwi fruit, grapes, orange juice, zucchini, squash, and corn. Currently, there is insufficient available evidence to recommend for or against the use of lutein for atherosclerosis (hardening of the arteries). Additional study is needed in this area.
  • Avoid if allergic or hypersensitive to lutein or zeaxanthin. Use cautiously if at risk for cardiovascular disease or cancer. Avoid if pregnant or breastfeeding.
  • Lycopene: Lycopene is a carotenoid found in tomatoes, and it is also present in human serum, liver, adrenal glands, lungs, prostate, colon, and skin. It has been suggested that lycopene may be helpful in people with atherosclerosis or high cholesterol, possibly due to antioxidant properties. Several studies have been published in this area, most using tomato juice as a treatment. Study results have been conflicting, and additional research is needed.
  • Avoid if allergic to tomatoes or to lycopene. Due to a lack of conclusive data, avoid if pregnant or breastfeeding.
  • Omega-3 fatty acids: Omega-3 fatty acids are found in fish oil and certain plant/nut oils. Fish oil contains both docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA). Some research reports that regular intake of fish or fish oil supplements reduces the risk of developing atherosclerotic plaques in the arteries of the heart, while other research reports no effects. Additional evidence is necessary before a firm conclusion can be made.
  • Avoid if allergic or hypersensitive to fish, omega-3 fatty acid products that come from fish, nuts, linolenic acid, or omega-3 fatty acid products that come from nuts. Avoid during active bleeding. Use cautiously with bleeding disorders, diabetes, low blood pressure, or drugs, herbs, or supplements that treat any such conditions. Use cautiously before surgery. Pregnant and breastfeeding women should not consume doses that exceed the Recommended Dietary Allowance (RDA).
  • Safflower: It is unclear if safflower can effectively treat atherosclerosis. Limited available evidence suggests that safflower oil may increase oxidation of low-density lipoproteins (LDL) and lower thiobarbituric acid reactive substances (TBARS) when compared to fish oil. Additional study is needed to determine if safflower is an effective treatment for atherosclerosis.
  • Avoid if allergic/hypersensitive to safflower (Carthamus tinctorius), safflower oil, daisies, ragweed, chrysanthemums, marigolds, or any constituents from these plants. Use parenteral safflower oil emulsions cautiously in newborns. Use cautiously if taking anticoagulants (blood thinners) or anti-platelet drugs, immunosuppressants, or pentobarbital. Use cautiously with diabetes, hypotension, inadequate liver function, hypercoagulability, or skin pigmentation conditions. Use cautiously if pregnant or breastfeeding.
  • Vitamin E: Vitamin E exists in eight different forms ("isomers"): alpha, beta, gamma, and delta tocopherol; and alpha, beta, gamma, and delta tocotrienol. Alpha-tocopherol is the most active form in humans. Vitamin E has been proposed to have a role in preventing or reversing atherosclerosis by inhibiting oxidation of low-density lipoprotein ("bad cholesterol"). The effects of vitamin E on cholesterol levels and atherosclerosis have been studied in numerous laboratory, population, and clinical studies. It remains unclear if there are clinically meaningful benefits, and it is not known what the effects of vitamin E are compared to (or in combination with) other agents that have been clearly demonstrated as beneficial for lowering lipid levels. Further research is warranted before a clear conclusion can be made.
  • Avoid if allergic or hypersensitive to vitamin E. For short periods of time, vitamin E supplementation is generally considered safe if taken at doses that do not exceed the Recommended Dietary Allowance (RDA). Avoid with retinitis pigmentosa (loss of peripheral vision). Use cautiously with bleeding disorders.

Prevention
  • Currently, there is no known method of prevention for Hutchinson-Gilford progeria syndrome (HGPS). The condition occurs randomly during the development of the sperm or egg.
  • The condition is generally diagnosed in infants who are 6-24 months old. Early diagnosis of HGPS is important because prompt treatment and regular medical checkups help extend the child's lifespan.

Author information
  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography
  1. Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics. 2007 Oct;120(4):824-33.
  2. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006 Dec 1;140(23):2603-24.
  3. Kieran MW, Gordon L, Kleinman M. New approaches to progeria. Pediatrics. 2007 Oct;120(4):834-41.
  4. Meta M, Yang SH, Bergo MO, et al. Protein farnesyltransferase inhibitors and progeria. Trends Mol Med. 2006 Oct;12(10):480-7. Epub 2006 Aug 30.
  5. National Human Genome Research Institute (NHGRI). . Accessed December 3, 2007.
  6. National Institutes of Health (NIH). . Accessed December 3, 2007.
  7. Natural Standard: The Authority on Integrative Medicine. . Copyright © 2008. Accessed December 3, 2007.
  8. Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet. 2004 Nov;66(5):375-81.
  9. The Progeria Research Foundation. . Accessed December 3, 2007.
  10. Wisuthsarewong W, Viravan S. Hutchinson-Gilford progeria syndrome. J Med Assoc Thai. 1999 Jan;82(1):96-102.

Causes
  • 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.

Risk factors
  • Race: Ninety-seven percent of people with Hutchinson-Gilford progeria syndrome (HGPS) are Caucasian.
  • Gender: Males are 1.5 times more likely to have HGPS than females. The reason for this remains unknown.

Copyright © 2011 Natural Standard (www.naturalstandard.com)


The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

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