Bone Disorders Related to Hereditary Hemochromatosis

Introduction:

Hereditary hemochromatosis is a disorder that leads to excessive iron absorption from food. Excess iron is stored in the organs and tissues, especially the skin, heart, liver, pancreas, and joints. Since humans are unable to increase iron excretion, excess iron can lead to overload and ultimately damage tissues and organs. Hereditary hemochromatosis is classified into four types according to the age of onset and other factors that include genetic cause and the mode of inheritance.

• The most prevalent type of disease, type 1 and type 4 (also called ferroportin disease), begins in adulthood. Men having type 1 or type 4 hemochromatosis usually develop the symptoms of hemochromatosis between the ages of 40 and 60, and women develop these symptoms after menopause.

• Type 2 hemochromatosis is known as a juvenile disease because symptoms often appear in childhood. By the age of 20, iron accumulation leads to decreased or absent sex hormone secretion. Affected women usually start menstruating normally, but menstruation stops after a few years. Men may experience delayed puberty and symptoms related to sex hormone deficiency. Left untreated, type 2 hemochromatosis reveals potentially fatal heart disease by age 30.

• The onset of type 3 hemochromatosis is usually between types 1 and 2, and symptoms generally begin before age 30.

What Is Bone Disorder Related to Hereditary Hemochromatosis?

Hereditary hemochromatosis can lead to excessive iron accumulation in a person’s body. This condition is often associated with disorders related to the bone. It is characterized by low bone mass, osteoporosis/osteopenia (weak and brittle bones), the altered structure of the bone, and increased incidence of fractures. The osteoporotic bone type represents a significant complication in patients with an overload of iron in the body. This happens because iron and calcium are absorbed by the same receptors. Due to this reason, excess iron in the body prevents proper absorption of calcium, leading to reduced bone health.

What Are the Causes of Bone Disorder Related to Hereditary Hemochromatosis?

Mutations in multiple genes can lead to hereditary hemochromatosis.

• Hemochromatosis type 1 results from mutations in the HFE gene.

• Hemochromatosis type 2 results from mutations in either the HJV or HAMP genes.

• Mutations in the TFR2 gene cause type 3 hemochromatosis.

• Mutations in the SLC40A1 gene cause type 4 hemochromatosis.

The proteins produced by these genes play an essential role in regulating iron uptake, transport, and storage in the body. Mutations in one of these genes affect the control of iron absorption from food during digestion through the intestine and alter iron distribution to various other parts of the body. As a result, iron gets accumulated in the tissues and organs, which can impair normal function.

What Are the Symptoms of Bone Disorder Related to Hereditary Hemochromatosis?

Some people with hemochromatosis have no symptoms at all. Early symptoms often overlap with symptoms of other common diseases. Symptoms may include:

• Joint pain.

• Reduced bone quality.

• Frequent fractures.

• Malaise.

• Weakness.

• Stomach ache.

• Diabetes.

• Impotence.

• Loss of libido.

• Heart failure.

• Liver failure.

• Bronze or gray skin color.

• Memory fog.

When to Get Help for Bone Disorder Related to Hereditary Hemochromatosis?

Seek immediate medical help in case of the signs and symptoms listed below:

• Back pain due to broken or crushed vertebrae.

• Height loss over time.

• Stooped posture.

• Brittle bones.

• Severe bone pain.

• Vomiting.

• Nausea.

• Weakness.

• Lethargy.

How Is Bone Disorder Related to Hereditary Hemochromatosis Diagnosed?

The bone disorder related to hereditary hemochromatosis is diagnosed in the ways listed below:

1. Blood Test: This test is done to help determine iron overload in the body. Blood test includes the following:

• Serum Transferrin Saturation - This test measures the percentage of iron bound to transferrin, a protein-carrying iron in the blood. Transferrin saturation levels above 45 percent are considered too high.

• Serum Ferritin - This test measures the amount of iron stored in the liver. If your serum transferrin saturation test results are higher than normal, the doctor may test the serum ferritin levels.

1. Liver Function Test - These tests help detect liver damage.

2. Magnetic Resonance Imaging (MRI) - It is a rapid and non-invasive method to measure levels of iron overload in the liver.

3. Test for Genetic Alterations - If iron levels in the blood are high, testing for DNA for alterations in the HFE gene is highly recommended.

4. Liver Biopsy - If the doctor suspects damage to the liver, then a liver biopsy may be required. A liver biopsy involves the use of a thin needle to remove a sample of tissue from the liver. Samples are sent to a lab and tested for the presence of iron. The doctor looks for evidence of liver damage, especially scarring and cirrhosis. Biopsy risks include bruising, bleeding, and infection.

5. Assessment of Bone Health - A bone density scan uses low-dose X-rays to check the density (or strength) of your bones. It is also known as a DEXA (dual-energy X-ray) scan. Bone density scans are often used to diagnose or assess the risk of osteoporosis, a condition that makes bones weak and prone to fractures.

What Is the Treatment of Bone Disorder Related to Hereditary Hem0chromatosis?

The treatment methods for the bone disorder related to hereditary hemochromatosis are listed below:

• Removal of Blood -Healthcare practitioners treat hemochromatosis safely and effectively by regularly removing blood from the body. Same as donating blood. This procedure is called phlebotomy.

• Adding a Chelating Agent - In the case of certain medical conditions, such as anemia or heart complications, phlebotomy may not be an option. Instead, the doctor may recommend medications to remove excess iron. The medicines can be injected into the body or taken as tablets. This drug binds excess iron and allows the body to eliminate it from the urine and stool in a process called chelation. Chelation is not commonly used in hemochromatosis.

• Medications to Treat Osteoporosis - In severe cases, medications to treat osteoporosis may be given. Some medications are Teriparatide, Abaloparatide, Romosozumab. The function of these medications is to stimulate the formation of new bone.

What Are the Complications of Bone Disorder Related to Hereditary Hemochromatosis?

There is reduced bone density and brittle bones, which may lead to easy breakage. Spine and hip fractures, mainly, are the most severe complications of bone disorder related to hereditary hemochromatosis. Hip fractures, often caused by falls, can lead to disability and even increase the risk of death within a year of the injury. In some cases, a spinal fracture can occur without a fall. The bones of the spine (vertebrae) weaken to the point of collapse, leading to back pain, loss of height, and a forward-leaning posture.

How to Prevent Bone Disorder Related to Hereditary Hemochromatosis?

The bone disorder related to hereditary hemochromatosis can be prevented in the ways listed below:

• Avoid Intake of Iron Supplementation - These can further increase iron levels in the body.

• Avoid Vitamin C Supplementation - Vitamin C enhances iron absorption. However, it is usually not necessary to restrict vitamin C in the diet.

• Take Calcium Supplementation - Taking calcium supplementation along with vitamin D can help with countering its deficiency in the body and preventing bone disorders related to hemochromatosis.

• Avoid alcohol - Alcohol greatly increases the risk of liver damage in patients with hemochromatosis.

• Avoid Eating Raw Seafood - People with hemochromatosis are at an elevated risk of infection, especially from certain bacteria found in raw seafood.

Conclusion

Calcium and iron target the same receptors during absorption, and as a result, calcium and iron inhibit each other’s absorption when taken together. Hereditary hemochromatosis is a genetic condition that causes the body to absorb excess iron from food. Excess iron is stored in organs, especially the liver, heart, and pancreas. Excessive iron levels can lead to life-threatening conditions such as liver disease, heart disease, diabetes, and bone disorders. The presence of excessive iron in the blood of a person causes reduced absorption of calcium in the body leading to weak and brittle bones. Timely and effective diagnosis and treatment of this condition may lead to a better course of the disease and quality of life for a person suffering from this condition.