Progeria: causes, symptoms and treatment

Since its first description in 1886, progeria has become a well-known disease due to a special fact: children with this serious disorder seem to age very quickly and show signs similar to those of old age. In this article we will explain what are the symptoms, causes and treatment of progeria.

    What is progeria?

    Progeria is a disease of genetic origin that causes accelerated and premature aging of boys and girls who suffer from 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 in the late 19th century.

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

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

      Main symptoms and signs

      Girls and boys with progeria usually look normal in the months after birth. However, their rate of growth and weight gain soon turned out to be lower than those of other cubs, and the rate of aging seemed to increase tenfold.

      the same characteristic facial features such as a thin nose appear and sharp finish, thin lips and prominent eyes and ears. The face tends to be thinner, narrower, and wrinkled than that of other girls and boys; something similar happens to the skin as a whole, which looks aged and also has a deficit of subcutaneous fat.

      It is also very common to see other signs reminiscent of aging, such as hair loss and the appearance of deformities in the joints. However, intellectual development and motor are not affected, So that children with progeria can function almost normally.

      The cardiovascular disorders characteristic of progeria, which manifest mainly in the presence of atherosclerosis and worsen significantly as development progresses, are the key sign to understanding the short life expectancy of people with progeria.

      So, concisely, we can say that the most common symptoms and signs of progeria are as follows:

      • Stunted growth and weight gain during the first year of life.
      • Small size and weight.
      • Generalized weakness of the body due to degeneration of muscles and bones.
      • Disproportionately large head (macrocephaly).
      • Alterations in facial morphology (eg narrower and wrinkled).
      • Jaw smaller than normal (micrognathia).
      • Hair loss in the head, eyebrows and on the eyelashes (alopecia).
      • Delayed or non-existent dental development.
      • Weakness, dryness, roughness and smoothness of the skin.
      • Opening of the fountains (gaps in the skulls of the babies).
      • Decreased range of motion in joints and muscles.
      • Early onset of atherosclerosis (hardening of the arteries due to an accumulation of fat).
      • Increased risk of myocardial infarction and stroke.
      • Late development of renal failure.
      • Progressive loss of visual acuity.

      The 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 lamellae A and C) essential to create filaments that provide strength and resistance to cell membranes, as well as to shape the nucleus of cells.

      Alterations in the LMNA gene make cells, especially their nuclei, more unstable than normal and therefore more susceptible to damage. This makes them degenerate more easily and tend to die prematurely. However, it is not known exactly how such a mutation relates to signs of progeria.

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

        treatment

        Since progeria has its origin in genetic mutations, there is currently no effective treatment to modify its manifestations. That is why the management of progeria cases is mainly symptomatic.

        The increased risk of heart and stroke can be fought by consuming medications such as statins (which are used to lower cholesterol levels) and acetylsalicylic acid, better known as “aspirin”. Sometimes coronary bypass surgery is also done.

        Respiratory, skeletal, muscle, kidney problems and other types are treated in the same way: treating manifestations without intervening at the genetic level. Although research is being carried out in this regard, the effectiveness of any treatment against progeria has not yet been demonstrated.

        Bibliographical references:

        • Gilford, H. and Shepherd, RC (1904). Ateleiosis and progeria: continuous youth and premature old age. British Medical Journal, 2 (5157): 914-8.
        • Gordon, LB; Brown, WT and Collins, FS (2015). Hutchinson-Gilford progeria syndrome. Gene examinations. Retrieved July 4, 2017, from https://www.ncbi.nlm.nih.gov/books/NBK1121/
        • Hutchinson, J. (1886). Case of congenital absence of hair, with atrophic state of the skin and its integuments, in a child whose mother was almost completely bald from alopecia areata since the age of six. Lancet, 1 (3272): 923.

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