Hemochromatosis

The liver is an organ with several functions, including the production of proteins, the storage of glycogen and the secretion of bile, necessary for the digestion of fatty substances, or the storage of iron for the synthesis of hemoglobin and other proteins. The accumulation of iron in the liver is carried out by binding this to the protein ferritin, since otherwise the iron would damage the liver tissue. If, for various reasons, the absorption of iron is increased and it accumulates in excess in the liver, preventing said accumulation of the organ from carrying out its functions, it is said that the patient suffers from a disease called hemochromatosis.

• It is produced by an excessive accumulation of iron in the liver that prevents it from carrying out its functions.
• The basic treatment of hemochromatosis consists of reducing iron levels in the blood and this is achieved through periodic phlebotomies, that is, blood draws.
• It is a treatment for life, at the rate of 2-4 extractions per year.

How is it produced?

Hemochromatosis is a disorder that occurs in about 4-5 people out of every thousand inhabitants and is generally diagnosed between 40 and 60 years of age.

Iron is acquired through food in very low amounts, at a rate of 1 mg per day, which is approximately what is lost daily. Iron is absorbed in the intestine and is transported through the blood together with transferrin, which takes it to the bone marrow for the synthesis of hemoglobin, as well as to all types of cells, since many proteins and enzymes have an iron component in its structure. The excess iron accumulates in the liver together with another protein, ferritin, and is thus stored within the hepatocytes.

There are two main causes, congenital and acquired hemochromatosis. Congenital or primary hemochromatosis is due to a mutation on chromosome 6 in which various genes are involved. In these cases there is a progressive increase in transferrin saturation with ferritin levels that may be normal.

Secondary or acquired hemochromatosis is usually related to the administration of multiple blood transfusions, generally chronic ones with iron overload, such as thalassemia major, chronic hemolytic anemia or sideroblastic anemia. Chronic liver disease of any etiology, such as viral, drug, alcohol, or autoimmune hepatitis, can predispose to hemochromatosis. The intake of vitamin C or iron supplements can promote the progression of the disease.

Symptoms

The vast majority of patients with hemochromatosis are asymptomatic. The main organs affected by this excessive accumulation of iron are the liver in the first place and also the pancreas, the heart, the skin, the joints, the thyroid and the pituitary.

The disease manifests itself in three different stages:

• Stage I: there is no excess iron
• Stage II: there is excess iron but no symptoms
• Stage III: there is both excess iron and symptoms.

Liver involvement is progressive, causing fibrosis of the liver tissue and an inability of the organ to perform its secretion and purification functions. In the long run, fibrosis can lead to cirrhosis, a fact that occurs in 60% of patients, and also increases the risk of damaged tissue degenerating into hepatocarcinoma, which is the cause of death in 30% of patients. with hemochromatosis. Liver involvement causes the liver to enlarge (hepatomegaly) and produce jaundice, abdominal pain and accumulation of fluids in the abdomen, which is called ascites.

At the pancreatic level, either due to damage to the pancreatic beta cells, or due to liver involvement itself, 50-60% of patients with hemochromatosis develop a certain degree of.

The accumulation of iron at the level of the muscle fibers of the heart can cause a congestive as well as heart rhythm disturbances.

35% of patients with hemochromatosis suffer joint involvement, causing different degrees of arthritis and osteoarthritis, affecting mainly the metacarpophalangeal joints, as well as shoulders, wrists, hips and knees.

The infiltration of iron in different glands can lead to alterations of the gonads, giving testicular atrophy, and low libido, if the thyroid is affected, or else.

At the cutaneous level, about three-quarters of patients with hemochromatosis have darker skin pigmentation, such as tanning. Likewise, loss of body hair and nail changes can occur.

Diagnosis

The diagnosis of hemochromatosis is based initially on the diagnostic suspicion due to the symptoms that the patient may present. In case of this suspicion, the first step is to perform a blood test to assess the levels of transferrin, ferritin and serum iron (normal below 150), as well as the total iron-binding capacity (TIBC).

If transferrin saturation is normal but ferritin is elevated (greater than 200-300), non-genetic causes of hemochromatosis should be initially ruled out. In case of an elevation of transferrin (greater than 45-55%) with a ferritin that is also elevated or with values ​​within normality, a genetic study should be considered to determine the possible alteration of the different genes of chromosome 6 involved in this sickness. If no genetic alterations are detected, possible secondary causes of hemochromatosis should be investigated.

In the case of hereditary hemochromatosis, it is important to carry out a genetic study also on the patient's first-degree relatives.

Obviously, it is also necessary to carry out a liver study, both by means of the transaminase values ​​at the level of the blood test, and with an ultrasound to observe the possible liver tissue damage, its increase in size or the possible presence of cirrhosis or hepatocarcinoma .

If, in the laboratory test, ferritin levels are very high, above 1000 micrograms per liter, or the transaminases are altered, it would be advisable to perform a liver biopsy, as well as if there are symptoms of liver involvement or the patient is over 40 years old. . The biopsy makes it possible to determine the involvement of liver tissue, the degree of iron accumulation in the liver, and assess the prognosis. In case of contraindication to the biopsy, an MRI (MRI) can be performed.

Given the high prevalence of hepatocellular carcinoma in these patients, an ultrasound study is recommended every 6-12 months if they present any degree of cirrhosis. In the absence of cirrhosis, the life expectancy of these patients is similar to that of the general population.

Treatment

The basic treatment for hemochromatosis is to reduce iron levels in the blood and this is achieved through periodic phlebotomies, that is, blood draws. They should be performed on all patients with transferrin levels greater than 45% and elevated ferritins, whether or not there are clinical symptoms. Decreased serum ferritin is the most reliable marker of treatment efficacy. The collected blood can be used for donations.

Treatment is for life at the rate of 2-4 extractions per year. When extractions are carried out, good hydration must be ensured, an adequate intake of protein, vitamin B12 and folic acid must be maintained, and alcohol, as well as iron and vitamin C supplements, must be avoided.

Precautionary measures

In the case of hereditary hemochromatosis, there are no preventive measures to avoid it. If you suspect the disease or have a direct family history of it, it is important to put yourself in the hands of a digestive specialist.