Understanding Hemochromatosis : Symptoms, Causes and Management

Overview

What is Hemochromatosis?

Hemochromatosis is a genetic disorder in which the body accumulates excessive amounts of iron.

It is one of the most common hereditary diseases, affecting 1 in 200 persons and mostly people of European descent. It may have negative impacts on several organs and physiological processes.

This article seeks to give a thorough review of hemochromatosis, highlighting its causes, signs, symptoms, diagnosis, and available treatments. We can support early detection of this iron overload illness and enhance the lives of those affected by it by raising awareness and knowledge.

Symptoms

Symptoms of Hemochromatosis

• Fatigue and weakness
• Joint pain and stiffness
• Abdominal pain
• Sexual dysfunction
• Skin discoloration
• Abnormal heart rhythms
• Liver dysfunction

It is a complicated disorder that can show up as various symptoms. Not everyone will suffer the same symptoms; some may go for a long time without showing any signs. They can range in severity, though; if addressed, they could worsen over time.¹Symptoms| Researched based study from Nlm.nih.gov

Weakness

• Weakness and constant fatigue are usually noted.
• The excessive iron buildup might impact stamina and energy levels, making you feel exhausted.

Stiffness and joint discomfort

• It frequently affects the hands, wrists, knees, and ankles, resulting in joint discomfort and stiffness.
• People with this symptom, sometimes mistaken as arthritis, may suffer swelling, soreness, and restricted mobility in the affected joints.

Abdominal pain

• Abdominal pain, usually in the upper right quadrant, might occur in certain people.
• Iron buildup in the liver, which causes inflammation and organ enlargement, maybe the origin of this pain.

Sexual dysfunction

• It may impact hormone production and sexual function, resulting in diminished libido and erectile dysfunction in men, and irregular menstrual periods in women.
• These could result from iron buildup in the testicles or ovaries, interfering with average hormone balance.

Skin discoloration

• Skin coloration may be impacted by it. People affected could notice a bronze or greyish discoloration, especially in body parts exposed to sunlight, like the hands, face, and lower extremities.
• These conditions are frequently called “bronze diabetes” or “bronze skin.”

Abnormal heart rhythms

• Heart problems such as palpitations or abnormal heart rhythms can result from iron surplus. Cardiomyopathy, a disorder characterized by the expansion and weakening of the heart muscle, can occur in severe cases.

Liver-related symptoms

• Jaundice, or yellowing of the skin and eyes, ascites, and high liver enzyme levels are all signs of liver malfunction.¹Symptoms| Researched based study from Nlm.nih.gov

Causes

What are the causes of Hemochromatosis?

Each of the two kinds of hemochromatosis has a unique etiology. The two types are

Primary hemochromatosis

• The genetic changes that because primary hemochromatosis interfere with the body’s ability to control iron absorption. A hereditary form of the condition is thought to be responsible for most cases¹Causes| Researched based study from Nlm.nih.gov

Secondary hemochromatosis

• Other medical disorders or causes, such as chronic liver diseases, viral hepatitis, nonalcoholic fatty liver disease, alcoholic liver disease, and genetic liver diseases may also contribute to secondary hemochromatosis.¹Causes| Researched based study from Nlm.nih.gov

Other common reasons are as follow:

Bleeding issues

• Iron can build up due to thalassemia, sideroblastic anemia, and myelodysplastic syndrome.

Excessive consumption of iron

• Rarely, it could be brought on by excessive iron supplements or frequent blood transfusions.¹Causes| Researched based study from Nlm.nih.gov

Risk factors

Risk factors

While possessing a particular gene mutation is the leading risk factor, additional factors can affect the likelihood of developing the condition or its severity.

Family history

• A family history of the condition increases the probability of developing hemochromatosis.

Gender

• Men are more frequently affected than women. However, because of the iron lost via menstruation, women are more at risk after menopause.

Age

• The symptoms will show up in middle age or later. As people age, risk increases.

Excessive consumption of iron

• People already prone to the condition may be at greater risk from high iron intake.

Other elements

• Alcohol use, hepatitis C infection, and certain liver conditions may exacerbate iron overload.⁶Risk Factors| Researched based study from Hoacny.com

Complications

Complications associated with Hemochromatosis

A liver disorder

• It can result in diseases like cirrhosis, hepatocellular cancer, liver fibrosis, and hepatitis.

Heart problems

• An excessive iron buildup in the heart muscle causes cardiomyopathy (enlarged heart) and heart failure

Diabetes

• It may result in insulin resistance and the onset of type 2 diabetes. The extra iron can interfere with pancreatic function and affect insulin production and regulation.

Painful joints and arthritis

• It may result in stiffness in the joints and, eventually, arthritis. The joints most frequently impacted are the hands, wrists, knees, hips, and ankles.

Impotence and hypogonadism

• Hormone imbalances may result from the disruption of hormone synthesis. It may result in symptoms like erectile dysfunction, diminished libido, and infertility.

Abnormalities of the hormones

• It can impact several endocrine glands, including the pituitary, thyroid, and adrenal glands, resulting in hypopituitarism, adrenal insufficiency, and hypothyroidism.

Pancreatic dysfunction

• The pancreas can become ineffective due to iron buildup, which can cause pancreatitis or pancreatic insufficiency, which can cause malnutrition and weight loss.

Increased susceptibility to infection

• Bacterial and fungal growth may be promoted by excess iron.⁵Complications| Researched based study from Nhs.uk

Diagnosis

Diagnosis of Hemochromatosis

Physical examination and medical background

• A thorough medical history, including any family history of hemochromatosis or associated diseases, will be taken by your doctor to start. They will also look for symptoms and signs.

Blood tests

• The primary test checks blood iron levels, particularly serum ferritin. Increased ferritin levels could be a sign of too much iron being stored.
• Additional blood tests, such as transferrin saturation and total iron binding capacity, are performed to evaluate iron metabolism.

Genetic testing

• This can confirm the presence of particular gene mutations linked to hereditary hemochromatosis.

Testing for liver function

• These tests are frequently carried out because iron buildup often affects the liver.
• To evaluate the liver’s healthier, they examine the amounts of several proteins and enzymes in the blood.

Imaging exams

• The liver can be examined and its health evaluated using ultrasound, MRI, or Ct scans.

Liver biopsy

• A liver biopsy can sometimes be carried out to determine the extent of liver damage and confirm the existence of extra iron.³Diagnosis| Researched based study from Nlm.nih.gov

Treatment

Treatment of Hemochromatosis

The body’s high iron levels must be reduced to protect its organs from harm.

Phlebotomy therapy

The most popular and successful course of action is this. Like blood donation, it involves routine blood removal from the body.

• Phlebotomy helps lower iron levels by removing extra iron accumulated in the body.
• Until the patient’s iron levels return to normal, therapy sessions may be scheduled more regularly, typically once or twice weekly.
• Following that, maintenance sessions are often carried out every few months or as your doctor directs.²Treatment| Researched based study from Nlm.nih.gov

Chelation therapy

Phlebotomy may not be an option or may be harmful in some circumstances. Thus, chelation therapy may be considered.

• Patients are given chelating medications like deferoxamine or deferasirox to bind with extra iron, making it easier for the body to eliminate through urine or feces.
• Sometimes, it is generally used when phlebotomy is insufficient or as an adjunctive treatment³Treatment| Researched based study from Nlm.nih.gov

Monitoring and dealing with complications

• Regular monitoring of iron levels, liver function, and other pertinent markers is crucial to evaluate treatment efficacy and spot any potential consequences.
• Additional therapies and interventions, like medications, lifestyle changes, and specialized care, may be needed if complications like cirrhosis or cardiac issues have emerged²Treatment| Researched based study from Nlm.nih.gov ,³Treatment| Researched based study from Nlm.nih.gov

Genetic counseling and screening

• Genetic counseling is advised for those diagnosed due to its hereditary nature. It can inform family members about their risk and encourage them to consider genetic testing if necessary.
• It can also provide information about the possibility of passing the problem on to future generations³Treatment| Researched based study from Nlm.nih.gov

Hemochromatosis dietary changes

To decrease iron absorption, people are typically recommended to adjust their diets.

• Avoiding foods high in iron, such as red meat, organ meats, iron-fortified cereals, and iron supplements, may be advised.
• Dietary iron absorption is improved by vitamin C. As a result, it is advised to pay attention to your vitamin C consumption, which includes citrus fruits, tomatoes, etc.
• Avoid eating raw seafood like oysters and clams because they may contain bacteria that can infect you and boost your body’s ability to absorb iron.
• Tanning agents and polyphenols, which are present in tea and coffee, can prevent the absorption of iron.
• Tea and coffee consumption before, during, or right after meals can reduce the amount of iron absorbed.
• Avoid drinking alcohol as it may worsen overload-induced liver damage and raise the risk of cirrhosis and liver cancer.
• It’s essential to stay well-hydrated because it can help to avoid difficulties. Enough water consumption can aid in the dilution of the body’s excess iron and promote kidney function⁴Treatment| Researched based study from Nhs.uk

Prognosis

What is the prognosis of Hemochromatosis?

The prognosis is based on several variables, such as the degree of iron overload, the occurrence of comorbidities, and how quickly the condition is identified and treated. It’s imperative to schedule routine follow-up appointments with a doctor to monitor iron levels, look for problems, and modify the treatment plan.

Overall, people can live healthy lives and reduce the effects of iron overload on their general health and well-being with early diagnosis, prompt treatment, and continued care.