Hemochromatosis

21:54 - 4 May , 2021

Disease

What is Hemochromatosis?

It is a hereditary pathology characterized by absorbing large amounts of iron from the food consumed, which accumulates primarily in certain organs, causing chronic heart, liver, and pancreatic conditions that can put your health at serious risk. The main cause of the development of hemochromatosis is if there is an abnormality in the gene responsible for controlling the absorption of iron. Hemochromatosis is classified into: 
  • Hereditary: it is the most common. Symptoms usually appear in adulthood.
  • Juvenile: it causes the same symptoms as the hereditary, but it appears earlier.
  • Neonatal: a serious autoimmune disorder in which iron accumulates rapidly in the liver of the unborn baby.
  • Secondary: it is the only non-hereditary and arises from anemia or chronic liver diseases that require blood transfusions.
The main risk factors for hemochromatosis are liver disease or hemolytic anemia, being male, or having a close relative (mother, father, or brother) with this condition.

Symptoms

Although some people with hereditary hemochromatosis may not have symptoms, these are characterized by:
  • Weakness.
  • Diabetes.
  • Abdominal pain.
  • Tiredness.
  • Sexual impotence.
  • Heart and liver failure.
  • Loss of sexual desire.
  • Aching joints.
  • Tan or grayish skin color.
  • Memory problems.
Possible complications of hemochromatosis include:
  • Progressive osteoarthritis.
  • Osteoporosis.
  • Arrhythmia.
  • Heart failure.
  • Cirrhosis.
  • Hepatocarcinoma.
  • Diabetes.
  • Hypogonadism.
  • Hypothyroidism.

Diagnosis and treatment

Once your doctor analyzes your symptoms and clinical history, they will perform a physical examination and request blood and genetic tests to find out if you have mutations in your HFE gene. If it's confirmed, no further tests will be needed, but if there's no genetic evidence, they'll order a liver biopsy, liver function tests, and an MRI. When hemochromatosis is diagnosed early, expectations are high and the patient can lead a normal life with regular blood draws or certain medications that help balance iron levels in the body and control symptoms. 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
  • cigna.com
  • medigraphic.com
  • Sandoval-Garín, Nadia; Zárate-Mondragón FE. Actualización en la hemocromatosis neonatal. Acta Pediatr Mex. 2021;42(6):294-304.
  • Murillo-Godínez G. Hemocromatosis. Med Int Mex. 2019;35(6):896-905.
  • Santana HEE. Hemocromatosis tipo 1. Informe de caso. Acta Med Cent. 2019;13(3):422-427.
  • Fernández DND, Forrellat BM, Valledor TR, et al. Hemocromatosis hereditaria tipo I: a propósito de cuatro casos confirmados. Rev Cubana Hematol Inmunol Hemoter. 2014;30(1):59-67.

						
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