Hutchinson-Gilford Progeria Syndrome (HGPS)

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Hutchinson-Gilford progeria (HGP) is an autosomal dominant syndrome characterized by the presence of a single copy of altered gene in each body cell. It is a rare disorder that occurs as a result of new genetic mutations particularly inside the LMNA gene. Hutchinson Gilford progeria is an autosomal condition and the affected person has no significant familial history of the disorder.

Clinical features of Hutchinson-Gilford progeria

Hutchinson Gilford progeria basically manifests in newborn babies and they usually present a normal appearance at birth. Significant changes caused by the HGP can be observed within 1 year duration and these babies gradually display rapidly progressing signs of aging. HGP causes abnormal facial characteristics such as craniofacial disproportion, micrognathia (small jaw), alopecia (hair loss), prominent scalp veins and eyes.

Some of the typical physical features in children caused by the HGP condition include short stature due to delayed growth phase; lack of subcutaneous body fat causing under-weight; aged appearance caused by premature formation of wrinkles on the skin; voice with a typical thin and high pitched tone; delayed dentition; horse riding gait; and a characteristic pear-shaped (pyriform) thorax.

In addition, HGP affected children prematurely age about a decade older for each upcoming year in their life. For instance, a 10 year old HGP affected child physically appears like a 65 year old person and commonly suffers from arthritis, heart disease in addition to various other conditions. Anatomically, the functioning mechanism of cardiovascular, respiratory, and nervous systems remains much similar to that of a senior citizen.

Risk Factors

Race: Caucasian race is 97 people more likely to develop the Hutchinson-Gilford progeria syndrome (HGPS).

Gender: Male patients are about 1.5 times at a higher risk of developing HGPS than females.

Causes

According to a genetic research, it has been demonstrated that Hutchinson-Gilford progeria syndrome (HGPS) is caused by genetic mutation in the lamin A (LMNA) gene. This gene guides the body to synthesize proteins which maintain the nuclear position in the cells. A mutated gene will be unable to produce a protein called lamin A thus, leading to unstable cellular integrity eventually resulting in damage to the nucleus. As a result, the symptoms of progeria develop due to premature cell death.

Signs and Symptoms of HGPS

Hutchinson-Gilford progeria syndrome (HGPS) generally affects children in an age group ranging between 6 months to 24 months. The child's growth is significantly slow in both height and weight compared to their normal counterparts. Physical features include beaked nose, narrow face, older looking face, lack of eyelashes and eyebrows, skin tightening (scleroderma), asymmetric large head, hip dislocations, abnormal tooth formation, delayed primary teeth shedding, and stiff joints. However, the HGPS affected children have normal mental and motor development like other normal children.

Diagnosis of Progeria

Genetic testing: Hutchinson-Gilford progeria syndrome (HGPS) affected children at an age group ranging between 6 months - 2 years should undergo a genetic test which determines the mutation in lamin A (LMNA) gene. The child's lifespan can be extended with periodic medical checkups and through prompt treatment by detecting the condition early through genetic testing.

Physical examination: HGPS affected children can be solely diagnosed by the doctors by thoroughly examining the patient's physical symptoms.

Complications of Progeria

About 90 percent of the HGP affected patients suffer from serious health complications like rapidly progressive atherosclerosis of the cerebrovascular (stroke) and coronary arteries (heart failure) eventually leading to death at an age of 13 years. Other fatal complications that lead to death include osteoporosis, malnutrition, and Hutchinson-Gilford progeria syndrome (HGPS), which is one of the rarest genetic disorders characterized by an extreme aged appearance at a very young age.

Treatment

Hutchinson-Gilford progeria syndrome has no cure and the treatment is only aimed at reducing the risk of developing associated health complications. Moreover, it has no effective therapy and potent medications are administered during pre-clinical stages. Low dose aspirin therapy is preferred for preventing the cerebrovascular and cardiovascular atherosclerotic disease. Hydrotherapy is advised for reducing arthritis related complications and joint mobility. Adequate intake of nutrients and energy boosting supplements are usually recommended. Growth hormone is the preferred line of therapy to induce weight gain and to promote linear growth. Others medicines like zoledronate (Reclast or zometa) bisphosphonate, Pravastatin (Selektine or Pravachol) are generally prescribed to treat hypercalcaemia and to reduce high cholesterol levels in the body respectively.

References:

http://www.wellness.com/reference/conditions/hutchinson-gilford-progeria-syndrome-hgps/symptoms-and-causes

http://emedicine.medscape.com/article/1117344-treatment

http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome

Suggested Reading

http://en.wikipedia.org/wiki/Progeria

About the Author

Dr Chaitra S's picture
Author: Dr Chaitra S

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