Wilson’s disease

21:54 - 4 May , 2021

Disease

What is Wilson’s disease?

It is a hereditary disease characterized by the accumulation of copper in vital organs such as the brain and liver, among others, which if not treated in time can be life-threatening due to the excess of this metal, which is of the utmost importance for the development of collagen, bones, melanin, skin pigments, and healthy nerves. It is important to mention that copper is absorbed from food and the excess is discarded through the bile, but due to the inability of the body to eliminate this excess, a series of serious complications arise. Wilson's disease is usually diagnosed between the ages of 6 and 32, although it can also manifest at later ages. Its appearance is due to the presence of an abnormal gene from both parents. When diagnosed early, it is fully treatable and you can lead a normal life with the necessary preventive measures.

Symptoms

Although the pathology is latent from birth, the symptoms appear when copper is stored in the affected organs, presenting:
  • Eyes that take on a golden color.
  • Exhaustion.
  • Abdominal pain.
  • Edema in the abdomen and legs.
  • Lack of appetite.
  • Jaundice.
  • Uncontrolled movements.
  • Problems articulating language.
  • Swallowing difficulties.
  • Muscle numbness
Potential risks: Wilson's disease must be treated early to avoid complications that can be life-threatening, such as:
  • Ataxia.
  • Cirrhosis.
  • Permanent neurological damage.
  • Hemolysis, causing anemia and jaundice.
  • Liver failure.
  • Kidney problems.
  • Psychological disorders that include personality and behavior changes such as depression, irritability, or psychosis.

Diagnosis and treatment

Once your doctor analyzes your symptoms and clinical history, they will perform a physical examination and request various tests that confirm that it is Wilson's disease, since the symptoms can be confused with those of other diseases. Among the required tests are:
  • Liver ultrasound.
  • Blood and urine tests.
  • Liver biopsy.
  • Eye exam.
  • Genetic tests.
Because Wilson's disease is incurable, the basic treatment is to reduce copper deposit in the body through:
  • Diet changes.
  • Medications that help capture copper, facilitate its elimination through the urine and limit its absorption in the intestine.
If liver function is severely damaged, a liver transplant may be required. 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:

  • cun.es
  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • topdoctors.es
  • medigraphic.com
  • Alva-Moncayo E, Castro-Tarín M, González-Serrano A. Enfermedad de Wilson. Caso pediátrico y revisión de la literatura. Rev Med Inst Mex Seguro Soc. 2011;49(3):331-334.
  • Rojas MVJ, Pérez MJD, Padilla SLÁ. Enfermedad de Wilson: generalidades y enfoque en un estudio de correlación para la determinación de ceruloplasmina sérica entre dos métodos para su diagnóstico. Revista Médica Sinergia. 2021;6(12):.
  • González&#;Paredes YJ, Almanza&#;Miranda E, Gorráez&#;delaMora MT, et al. Enfermedad de Wilson en una paciente con síndrome de Peutz-Jeghers: una asociación no descrita. Rev Mex Pediatr. 2020;87(1):21-25. doi:10.35366/93264.
  • Clark FY. Enfermedad de Wilson. Actualidad del tema. Revista Médica Electrón. 2016;38(1):57-66.

						

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