Progeria: causes, symptoms and treatment

Since it was first described in 1886, Progeria has become a well-known disease for a fact peculiar: children with this severe disorder seem to age very quickly and present signs similar to those of the old age. In this article we will explain what are the symptoms, causes and treatment of progeria.

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What is Progeria?

Progeria is a genetic disease that causes accelerated and premature aging in boys and girls who suffer it The word "progeria" comes from the Greek and could be roughly translated as "premature old age."

This disorder is also known as “Hutchinson-Gilford Progeria Syndrome” in honor of Jonathan Hutchinson and Hastings Gilford, who independently described it at the end of the XIX century.

It is a very rare disease in the world population: it is estimated that appears in about 1 in 4 million births. Throughout the history of medicine, some 140 cases of Progeria have been recorded, although it is believed that there could be a similar number of people affected worldwide today.

Most people affected by Progeria die prematurely. The average life expectancy is around 14 or 15 years., although some patients survive for more than 20 years. Death is most often due to heart attacks and strokes associated with alterations in the circulatory system.

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Main symptoms and signs

Girls and boys with Progeria often appear normal for months after birth. However, their rate of growth and weight gain is soon revealed to be less than that of other little ones, and the rate of aging seems to be multiplied by 10.

In addition characteristic facial features such as a thin nose appear and finished in a beak, thin lips and prominent eyes and ears. The face tends to be thinner, narrower and more wrinkled than that of the rest of girls and boys; something similar happens with the skin as a whole, which appears aged and also shows a deficit of subcutaneous fat.

It is also very common for other signs reminiscent of aging to occur, such as hair loss and the appearance of malformations in the joints. Nevertheless, intellectual and motor development are not affectedTherefore, children with Progeria can have practically normal functioning.

Cardiovascular abnormalities characteristic of Progeria, manifesting primarily in the presence of atherosclerosis and worsening from significantly as development progresses, are the fundamental sign to understand the short life expectancy of people with progeria.

Thus, synthetically, we can say that the most common symptoms and signs of Progeria are the following:

• Delayed growth and weight gain during the first year of life.
• Low height and weight.
• Generalized body weakness due to degeneration of muscles and bones.
• Disproportionately large head size (macrocephaly).
• Alterations in the morphology of the face (eg. and. narrower and wrinkled).
• Jaw smaller than normal (micrognathia).
• Loss of hair on the head, in the eyebrows and on the eyelashes (alopecia).
• Delayed or absent tooth development.
• Weakness, dryness, roughness and fineness of the skin.
• Opening of the fontanelles (holes in the skull of babies).
• Decreased range of motion in joints and muscles.
• Early appearance of atherosclerosis (hardening of the arteries due to the accumulation of fat).
• Increased risk of heart attacks and strokes.
• Late development of renal alterations.
• Progressive loss of visual acuity.

Causes of this disease

The development of Progeria has been associated with random mutations in the LMNA gene, which has the function of synthesizing proteins (mainly lamin A and C) essential to create filaments that provide strength and resistance to cell membranes, as well as to give shape to the nucleus of cells.

Alterations in the LMNA gene make cells, especially their nuclei, more unstable than normal and therefore suffer damage more frequently. This causes them to degenerate more easily and tend to die prematurely. However, it is not known exactly how this mutation is related to the signs of progeria.

Although not generally associated with genetic inheritance, in some cases mutations in the LMNA gene appear to be passed from parent to child through an autosomal dominant mechanism.

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Treatment

Since Progeria is caused by genetic mutations, there are currently no effective treatments to modify its manifestations. That is why Progeria case management is mainly symptomatic.

The increased risk of heart and stroke can be combated by taking medications such as statins (used to lower cholesterol levels) and acetylsalicylic acid, better known as "aspirin". Coronary artery bypass surgery is also sometimes performed.

Respiratory, skeletal, muscular, kidney problems and other types are handled in a similar way: treating the manifestations without intervening at the genetic level. Although research is ongoing in this regard, no therapy for Progeria has yet been proven effective.

Bibliographic references:

• Gilford, H. & Shepherd, R. c. (1904). Ateleiosis and progeria: continuous youth and premature old age. British Medical Journal, 2(5157): 914–8.

• Gordon, L. B.; Brown, W. T. & Collins, F. S. (2015). Hutchinson-Gilford progeria syndrome. Gene Reviews. Retrieved on July 4, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1121/

• Hutchinson, J. (1886). Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata since the age of six. Lancet, 1(3272): 923.