What is hemochromatosis?
Hemochromatosis is a group of diseases characterized by an excess of iron in the body, which becomes toxic in excessive amounts. This excess iron gradually accumulates in various organs, such as the liver, pancreas, heart, and joints, and can cause serious damage over time.
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Hereditary hemochromatosis (primary)
Iron deficiency anemia is a genetic disorder, the most common in people of European descent. It is inherited from parents. In Spain, it is estimated to affect 1 in 500-1000 people. The vast majority of cases (70-80%) are due to mutations in the HFE gene, the most common being the C282Y mutation inherited from both parents. Other less frequent variants include the combination of C282Y and H63D mutations (double heterozygotes) or H63D homozygosity, which generally cause milder iron overload.
Secondary (acquired) hemochromatosis
This form results from another medical condition. The most common cause is repeated blood transfusions in patients with chronic anemia. Each transfused bag of blood provides approximately 0.2 grams of iron that the body has no mechanisms to eliminate, causing it to accumulate over time. It can also be due to certain types of hemolytic anemia or, rarely, to excessive and prolonged iron intake.
Causes and risk factors
The primary cause of hereditary hemochromatosis is genetic mutations that lead to increased-than-normal intestinal iron absorption throughout life. The main risk factors are genetic inheritance, sBeing of northern European origin (Irish, British, Scottish), being part of the male gender, and external factors such as alcohol consumption and the presence of hepatic steatosis (fatty liver).
Symptom
Early stage
The most common symptom is persistent fatigue and drowsiness. There may also be joint pain (arthralgia), especially in the knuckles of the hands.
intermediate phase
As iron accumulates, abdominal pain, general weakness, unexplained weight loss, and darkening of the skin may occur.
Advanced phase
When the overload is severe and has damaged organs, the symptoms become more specific and serious, such as diabetes, liver or heart problems.
Organs affected and complications
Liver
It is the most frequently affected organ. Iron accumulation can cause inflammation (hepatitis), scarring (fibrosis), and eventually cirrhosis. People with cirrhosis due to hemochromatosis have a significantly increased risk of developing liver cancer.
Pancreas
Iron damages the beta cells of the pancreas that produce insulin, which can trigger diabetes mellitus.
Heart
Iron overload in the heart muscle can cause cardiomyopathy (weakening of the heart) and arrhythmias, potentially leading to heart failure.
Endocrine system
In addition to the pancreas, other glands may be affected, such as the thyroid (hypothyroidism), the adrenal glands (adrenal insufficiency), and the pituitary gland.
Joints
The development of arthropathy (arthritis and osteoarthritis) is common, typically affecting the small joints of the hands, although it can also damage hips, knees, and wrists.
Sexual and reproductive symptoms in men with hemochromatosis
Erectile dysfunction
La erectile dysfunction Difficulty achieving or maintaining an erection is a common symptom in advanced stages due to hormonal or vascular damage.
Infertility or reduced fertility
Altered sperm production can make conception difficult.
Loss of libido
Decreased sexual desire or low libido It is common, associated with the drop in testosterone levels.
Testicular atrophy
A reduction in the size of the testicles may occur.
Extreme fatigue
A general symptom that contributes significantly to the deterioration of sexual function and desire.
Clinical and hormonal signs that suggest sexual involvement
In the presence of the above symptoms, doctors may suspect an endocrine disorder. Key signs include low testosterone levels in blood tests and abnormalities in pituitary hormones (LH and FSH), which are often inappropriately normal or low.
The presence of these signs along with other typical symptoms (fatigue, arthralgia) is a strong indication of hemochromatosis.
How is it diagnosed?
Blood Tests
These include transferrin saturation, which measures the iron circulating in the blood. Values above 45-50% while fasting and on two separate occasions are suspicious.
Serum ferritin is also measured, which estimates the amount of iron stored in the body. Elevated levels (>200 µg/L in women and >300 µg/L in men) confirm iron overload, although it is a nonspecific test that can also be elevated by inflammation, alcohol, or metabolic syndrome.
Genetic testing
If blood tests indicate overload, a genetic test is performed to look for mutations in the HFE gene (C282Y and H63D) and possibly diagnose hereditary hemochromatosis type 1.
Assessment of organic damage
Once diagnosed, it is necessary to assess the involvement of the organs.
Liver biopsy is reserved for selected cases, such as when cirrhosis is suspected and there are doubts with other methods.
Magnetic resonance imaging (MRI) with techniques such as FerriScan allows for non-invasive and precise measurement of iron concentration in the liver.
Elastography (FibroScan) evaluates the degree of fibrosis or scarring in the liver in a non-invasive manner.
Bone densitometry (DEXA) can also be performed to detect osteoporosis, echocardiograms to evaluate the heart, and glucose tests to rule out diabetes.
Updated treatment of hemochromatosis
Phlebotomies (bloodletting)
It involves regularly drawing blood, similar to a blood donation. Initially, this is done once a week or every two weeks (draining about 450 ml) until ferritin levels drop to a target range (usually 20-50 µg/L). This phase can last from months to years. Once the desired level is reached, a maintenance phase begins with less frequent blood draws (every 1-4 months) to prevent iron from accumulating again.
Chelation therapy
It is used when phlebotomies are not possible, primarily in secondary hemochromatosis (patients with anemia who already require transfusions). Chelating agents are drugs that bind to iron in the body so that it can be eliminated through urine or feces. The main ones are deferoxamine, administered subcutaneously or intravenously (usually as a nighttime infusion), deferasirox, administered orally once a day, and deferiprone, another oral option, sometimes used in combination.
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Diet in hemochromatosis
Foods that should be limited
Red meats and organ meats, especially liver, which is very rich in easily absorbed iron, shellfish to prevent infections, and foods fortified or enriched with iron, such as some cereals.
Food interactions
Vitamin C supplements should be avoided, as they drastically increase iron absorption. Consuming fruits and vegetables rich in vitamin C with meals is acceptable, but should be done in moderation. Alcohol is toxic to the liver and can increase iron absorption, so it should be avoided or limited as much as possible.
On the other hand, tea and coffee inhibit iron absorption, so drinking them during meals can be beneficial, and dairy products (milk, cheese, yogurt) also reduce iron absorption.
Should iron be completely eliminated?
No. The goal is not to eliminate all iron, but to reduce excess iron to normal levels. A balanced and varied diet is usually sufficient. Iron supplements and vitamin complexes containing iron should not be taken.
Life expectancy for people with hemochromatosis
With early diagnosis and appropriate treatment (regular phlebotomies), the life expectancy of people with hemochromatosis can be normal or near normal.
The treatment prevents the development of cirrhosis, diabetes, and heart disease. However, if the disease is diagnosed late, when cirrhosis or significant organ damage is already present, life expectancy may be reduced due to the increased risk of liver cancer or other complications.
Consequences of hemochromatosis
If left untreated, hemochromatosis can have serious consequences, many of them irreversible, such as cirrhosis and liver cancer, insulin-dependent diabetes mellitus, cardiomyopathy and heart failure, degenerative arthropathy and chronic pain, hypogonadism (sexual dysfunction, infertility), hypothyroidism, and osteoporosis.
Frequently Asked Questions (FAQs)
Is there a cure for hemochromatosis?
There is no "cure" because the genetic cause cannot be eliminated. However, it is a highly treatable and manageable disease. Regular treatment keeps iron levels under control and prevents complications, allowing for a normal life.
How long does a person with hemochromatosis live?
If diagnosed early and treated properly, life expectancy is similar to that of the general population. The prognosis worsens if the diagnosis is late and serious complications such as cirrhosis or cancer are already present.
What diseases does hemochromatosis cause?
It mainly causes diseases resulting from iron accumulation damage such as liver cirrhosis, liver cancer, diabetes, cardiomyopathy, arthritis, hypothyroidism, osteoporosis and sexual dysfunction, among others.
Is hemochromatosis a chronic disease?
Yes, it is a chronic condition that requires lifelong management and treatment. Once iron levels normalize with initial treatment, an ongoing maintenance plan is necessary.
Is hemochromatosis fatal?
Untreated hemochromatosis can be fatal, primarily due to complications from cirrhosis or cardiomyopathy. However, with current treatment, mortality associated with the disease has been greatly reduced.
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Medical treatments with qualified professionals at Doctor T Clinic
En Doctor T Clinics We do not directly treat this type of pathologies, but if you are noticing chronic fatigue, lack of motivation, problems sleeping, or low libido, it is possible that the origin is a hormonal imbalance, such as a testosterone low.
We offer you tools to detect it early and, if necessary, initiate specialized medical treatment:
- Online Testosterone Test, where we will evaluate with this quick and free test if you have low testosterone or high testosterone in men with this simple, convenient test without leaving home.
- Testosterone Replacement Therapy (TRT), Indicated in cases of primary hypogonadism or secondary hypogonadism, it helps to recover your vitality, sexual energy and general well-being.
If you are looking for answers and a professional team that will listen to you, Doctor T Clinic is the right place. Schedule your appointment and start your recovery now!
Conclusion
If left untreated, hemochromatosis can lead to serious and life-threatening complications. Early clinical suspicion and diagnosis through blood tests and genetic testing allow for simple and effective treatment, preventing organ damage and ensuring a normal quality of life and life expectancy.
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