Progeria: causes, symptoms and treatment options

Progeria

Progeria, or Hutchinson-Gilford syndrome, is an extremely rare congenital disease that causes children to experience an accelerated aging process. The disease affects one in four to eight million children. Patients with progeria die prematurely: their life expectancy is approximately 14 years.

The causes

The disease is caused by a defective gene. Unlike other diseases associated with genetic mutations, progeria is generally not passed from generation to generation. But if a child is affected by the disease, the risk that a brother or sister will also suffer from it is nevertheless a little higher (between 0.2 and 2%). To date, no specific risk factors (such as parental lifestyle or environmental influences) have been identified.

Symptoms

Symptoms of progeria are similar to signs of a normal aging process, but occurs at a very young age.

From the first year of life, an affected child exhibits growth retardation and an aging phenomenon of the skin (wrinkles, spots, thinner skin), while the development of intelligence and motor skills remains normal. In addition, one can recognize a patient with progeria by his physical appearance: a relatively large skull compared to the rather narrow face, the absence of eyebrows, a pinched nose, a small stature, and rather prominent eyes.

Other symptoms of premature aging are observed:

  • hair loss (alopecia)
  • joint stiffness
  • loss of muscle mass and subcutaneous adipose tissue
  • arteriosclerosis
  • reduced bone density

Symptoms that occur with normal aging, but not with progeria.

Symptoms that occur with progeria, but not in a normal aging process.

  • skeletal malformations
  • no adolescent development

Most children with progeria die of cardiovascular problems associated with arteriosclerosis.

Similar syndromes

In addition to classical progeria, a number of other diseases of aging are distinguished, which are hereditary.

  • Neonatal progeria: in this disease, the symptoms of aging are visible from birth. Nevertheless, patients more often reach adulthood than children who suffer from the classic form.
  • Werner syndrome: symptoms of aging do not appear until adolescence. Most patients die from tumors, which are common in this disease.

Treatments

The diagnosis is confirmed by genetic testing. A complete physical exam can be used to assess the situation: height and weight charts are drawn and the condition of the blood vessels, heart, bones, hearing or vision is examined. Movement abilities and oral health are mapped. Treatment then focuses on supporting the patient, relieving and slowing the symptoms. There is no cure yet.

Treatment options

  • Regular monitoring of the heart and blood vessels is of great importance given the high risk of cardiovascular problems.
  • Diet monitoring, as getting enough calories, fluids and nutrients is often difficult for patients. Several small daily meals that are high in energy can help with adequate intake. In addition, it is important that children drink 1 to 1.5 liters of water per day.
  • Wearing suitable shoes, since patients often have pain when walking due to the loss of subcutaneous fatty tissue. Shoes with pads can help.
  • It is very important that patients stay as active as possible. A physical therapy and aquatherapy exercise program are ways often used to achieve this goal.
  • Taking medications to prevent cardiovascular problems.

In addition, special attention is paid to the quality of life. This is the case with adaptations at home and at school so that the patient can participate as much as possible in life in society, supported by psychological help to cope with the disease and its challenges.

Studies seem to indicate that a new drug (called Zokinvy) is showing promising results, with some effectiveness in slowing the progression of the disease. However, further research is needed to confirm this hope.

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