Hemochromatosis – Symptoms, Diagnosis, and Treatments
Hemochromatosis is the term used to describe a group of rare autosomal recessive (inherited) disorders that are caused by the body absorbing too much iron from the diet. It has a number of synonyms, including bronze diabetes, hemosiderosis, and hereditary hemochromatosis (HH). They are part of a larger group of conditions known as iron overload syndrome. [1]
There are many different types of hemochromatosis but the most common form is hemochromatosis type 1 (also known as HFE-related hemochromatosis, classic hemochromatosis, or HH). [2] It is caused by mutations in the HFE gene, which codes for a protein that is found on the surface membranes of several cell types, including liver and intestinal cells. [3]
Mutations in the HFE gene cause iron to accumulate in the organs and tissues, particularly in the liver, pancreas, heart, endocrine glands, and joints. The principal genetic defect associated with HH is a missense mutation in the C282Y protein, and this accounts for 80-85% of hereditary hemochromatosis cases. [4]
The accumulation of iron in the tissues occurs over the course of several years. Eventually, it begins to impact organ function. Without effective treatment, classic hemochromatosis can progress into a life-threatening condition that leads to organ failure, cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiomyopathy. [5]
In this article, we’re going to discuss the main signs and symptoms of hemochromatosis, the diagnosis protocol, and the treatments that are available for this condition.
Symptoms of Hemochromatosis
Hemochromatosis can cause a range of different symptoms, including:
- Chronic fatigue
- Weakness
- Pain the abdomen
- Joint pain
- Amenorrhea (loss of the menstrual cycle) or irregular periods
- Erectile dysfunction (inability to maintain an erection)
- Bronze or gray colored skin
- Low libido (low sex drive)
- Liver failure
- Heart failure
The signs and symptoms of hereditary hemochromatosis are usually present at birth but many people don’t experience any symptoms until much later in life. For men, symptoms usually appear after the age of 40. For women, the signs of hemochromatosis become more apparent after menopause as they are no longer losing iron each month during menstruation.
Diagnosis of Hemochromatosis
The clinical diagnosis of hemochromatosis involves a number of different steps. If classic hemochromatosis is suspected, doctors will check the levels of iron that are stored in the body.
Increased iron stores are reflected as elevated serum ferritin levels in the body. Doctors may also perform genetic testing to identify genetic mutations and C282Y protein defects. Serum ferritin and genetic testing can identify and diagnose HH while the patient is still asymptomatic.
Iron stores are calculated by measuring the ratio of serum iron to total iron-binding capacity. The only issue with this diagnostic method is the natural biological variability in the body’s iron stores. A number of factors can cause elevated ferritin levels, such as inflammation, liver disease, and lymphomas. [4]
Because of this, additional testing is always required to confirm a hereditary hemochromatosis diagnosis. In some cases, a liver biopsy may be taken to check for fibrosis or cirrhosis. If either of these issues is identified, doctors might adjust the patient’s treatment plan.
However, it’s important to note that liver biopsies are not always necessary. Elevated serum ferritin remains the best predictor of liver fibrosis caused by hereditary hemochromatosis.
Treatment Options for Hemochromatosis
There is no cure for hemochromatosis but there are many effective treatment options that can lower the amount of iron that is stored in the body and reduce symptom severity.
There are a couple of surgical procedures that may be offered to patients with hemochromatosis, which we have discussed below. However, we first want to cover the important lifestyle changes that are important in the long-term management of the condition.
While you don’t need to make any huge changes to your diet when you have hemochromatosis, there are some simple things that you can do to manage your condition more easily.
Generally, it’s recommended that you avoid foods that are high in iron and also foods that have added iron, such as many breakfast cereals. You should also avoid iron and vitamin C supplements. Vitamin C increases iron absorption from the foods in your diet. [6]
It’s also recommended that you avoid alcohol consumption. Alcohol is known to impact the function of the liver, an organ that is already compromised in hemochromatosis.
The medical interventions available for hemochromatosis treatment include:
- Phlebotomy, which involves removing a sample of blood at regular intervals, usually between once a week and once every few months. This is a life-long process.
- Chelation therapy, where medications are used to lower the amount of iron in the body. This option is usually only used if phlebotomy is difficult.
Complications of Hemochromatosis
Early diagnosis and treatment of hemochromatosis can minimize the negative impacts of the condition and reduce the risk of life-threatening complications. However, if the condition is not detected until later on in the person’s life when many symptoms are already present, there may be irreversible damage to some tissues and organs.
Long-term problems that have been associated with hemochromatosis include:
- Liver cirrhosis (scarring on the liver)
- Hepatocellular carcinoma (liver cancer)
- Diabetes mellitus
- Arthritis and severe joint pain
- Heart failure
Conclusion
Hemochromatosis is a serious condition that has the potential to cause serious health conditions. However, with appropriate treatments, hemochromatosis can have minimal impact on an individual’s life and well-being.
The treatment options involve long-term management of the condition to reduce symptom severity. Lifestyle changes, including dietary adjustments, are important to effectively manage hemochromatosis, alongside phlebotomy or chelation therapy.
Despite there being no cure for this inherited condition, life expectancy is no different from those without the condition, as long as there is early identification and iron stores are well-managed from the point of diagnosis onward.
References
[1] N B Voloshinа et al. Hemochromatosis - modern condition of the problem. 2018 Apr 19;90(3):107-112. doi: 10.26442/terarkh2018903107-112. https://pubmed.ncbi.nlm.nih.gov/30701865/
[2] National Organization for Rare Disorders (NORD). 2021. Classic Hereditary Hemochromatosis. https://rarediseases.org/rare-diseases/classic-hereditary-hemochromatosis/
[3] National Library of Medicine. 2019. https://medlineplus.gov/genetics/gene/hfe/
[4] Bruce R Bacon et al. Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. 2011 Jul; 54(1): 328–343. doi: 10.1002/hep.24330. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149125/
[5] Brian K Crownover and Carlton J Covey. Hereditary hemochromatosis. Am Fam Physician. 2013 Feb 1;87(3):183-90. https://pubmed.ncbi.nlm.nih.gov/23418762/
[6] Birgit Teucher and Manuel Olivares. Enhancers of iron absorption: ascorbic acid and other organic acids. Héctor CoriInt J Vitam Nutr Res. 2004 Nov;74(6):403-19. doi: 10.1024/0300-9831.74.6.403. https://pubmed.ncbi.nlm.nih.gov/15743017/