Hereditary hemochromatosis associated with HFE

Hemochromatosis is a disease that causes systemic iron overload. It is caused by defects in the HFE gene that codes for the hepcidin hormone involved in iron homeostasis.

Hereditary hemochromatosis associated with the HFE (HH) gene is an autosomal recessive disease characterized by increased iron absorption by the gastrointestinal mucosa. When iron is present in excess it becomes a dangerous substance as it can accumulate in the tissues, causing free radicals that interact with other molecules producing cellular damage. The damage at the cellular level eventually affects the proper functioning of tissues and organs such as the liver, pancreas, heart, hormonal systems and joints.

HH is relatively common in the population with a prevalence of 1/300.

Symptoms

It is important to differentiate between primary or hereditary hemochromatosis, which is caused by alterations in genes involved in the regulation of iron levels, and secondary or acquired hemochromatosis, which is caused by treatments or diseases that cause iron to accumulate in the body. This includes excess dietary iron, juvenile hemochromatosis, anemias (thalassemia major, sickle cell disease, chronic acquired anemias), chronic liver disease, etc.

In the early stages of hereditary hemochromatosis patients are asymptomatic, but as the total iron content in the body increases, if left untreated, symptoms may appear, including joint pain (the most common symptom), fatigue, fatigue and fatigue of the joints (the most common symptom).ntoma), fatigue, abdominal pain, heart problems, early menopause, damage to the adrenal gland and liver failure, among others.

There are many people who, although they have a genetic predisposition to develop hemochromatosis, do not manifest symptoms in their lifetime. However, they may have increased serum ferritin levels and it is advisable to follow up.

Disease management

In patients with HH it is recommended to avoid supplements containing minerals, iron and vitamin C. Avoid raw seafood and alcohol in patients with liver damage. Periodic tests should be performed to monitor serum ferritin levels.

If iron accumulation is found to be occurring, the most commonly used procedure to reduce levels is phlebotomy, which consists of drawing blood, usually once a week. Another available therapy is to use iron chelating drugs, however, given the side effects and effectiveness of phlebotomy, it is not recommended unless the patient has an elevated serum ferritin concentration accompanied by anemia.

Genes analyzed

HFE

Bibliography

Barton JC, Edwards CQ. HFE Hemochromatosis. 2000 Apr 3 [updated 2018 Dec 6]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Brissot P, Pietrangelo A, Adams PC, et al . Haemochromatosis. Nat Rev Dis Primers. 2018 Apr 5;4:18016.

Kowdley KV, Brown KE, Ahn J, et al . ACG Clinical Guideline: Hereditary Hemochromatosis. Am J Gastroenterol. 2019 Aug;114(8):1202-1218.

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