Progeria

21:55 - 4 May , 2021

Disease

What is Progeria?

It is a rare genetic condition that causes a rapid aging process in children and manifests in the first 24 months of life. There is no abnormality at birth, but from the first year, the characteristic signs of the disease begin to appear. Also known as Hutchinson-Gilford syndrome, progeria is caused by a genetic mutation in which the protein known as progerin is affected, producing an anomaly, damaging the cell nucleus, and causing premature aging. This pathology is not hereditary, it simply appears spontaneously, marking an approximate life expectancy of 14 years, although sometimes there are patients who can reach up to 21 years. Common causes of death among progeria patients are stroke and heart disease.

Symptoms

Symptoms consist of a characteristic physiognomy and health problems, such as:
  • Large head in proportion to the face.
  • Hair loss.
  • Height and weight below average.
  • Prominent eyes and incomplete closure of the eyelids.
  • Loss of eyebrows and eyelashes.
  • Wrinkled, thin, scaly, blotchy, and dry skin.
  • Limited range of motion.
  • A narrow face, thin lips, a small jaw, and an aquiline nose.
  • High-pitched tone of voice.
  • Cutaneous transparency that allows one to see the veins.
Among the health problems are:
  • Dislocated hip
  • Skin thickening.
  • Cardiovascular diseases.
  • Brittle bones.
  • Loss of muscle mass.
  • Insulin resistance.
  • Delay in the formation or growth of teeth.
  • Joint stiffness.
It is necessary to see a specialist if your child has these progeria characteristics for correct diagnosis and treatment. Potential risks:
  • Stroke.
  • Atherosclerosis.
  • Heart attack.
  • Congestive heart failure.

Diagnosis and treatment

Once your doctor analyzes your child's symptoms and medical history, they will perform a physical examination and laboratory tests to determine cholesterol and triglyceride levels, as well as insulin resistance. They will also request stress tests to see if there are cardiac irregularities and genetic tests to detect abnormalities. Although there is no cure for progeria and no specific treatment, taking aspirin daily can protect against stroke or heart attack. Depending on your child's symptoms, the doctor may recommend the use of statins to lower cholesterol, anticoagulants to prevent blood clots, and medications to help reduce blood pressure, headaches, and seizures. Likewise, they will prescribe a diet with high caloric content, physical and occupational therapy sessions, as well as regular dental check-ups and general check-ups to delay the evolution of the disease so that your child has a better quality of life. At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • genome.gov
  • topdoctors.es
  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • medigraphic.com
  • Lugones BM, Ramírez BM, Miyar PE, et al. Progeria o de Prisa por la Vida. Acta Cient Estud. 2008;6(4):221-225.
  • Flores-Alvarado LJ, Ramirez-Garcia SA, Núñez-Reveles NY. Las bases metabólicas y moleculares del síndrome de Cockayne. Rev Invest Clin. 2010;62(5):480-490.
  • Acosta-Aragón MA, Sierra-Zúñiga MF, Sotelo-Muñoz NF. Síndrome de Werner: a propósito de un caso probable. Medicina & Laboratorio. 2017;23(09-10):485-492.

						

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The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the ABC Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.