Heart

What is Hemochromatosis and what are its causes?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

Overview
- Iron is a mineral found in many foods.
- Too much iron is toxic to your body.
- It can poison your organs and cause organ failure.
- In hemochromatosis, iron can build up in most of your body’s organs.
- It builds especially in the liver, heart, and pancreas.
- Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
- Too much iron in the pancreas can lead to diabetes.
- If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
- an enlarged liver,
- liver failure,
- liver cancer,
- cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Types of Hemochromatosis
The two types of hemochromatosis are primary and secondary.
- Primary hemochromatosis is caused by a defect in the genes. These genes control how much iron you absorb from food.
- Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload.

The basic two types of hemochromatosis are:
- Hereditary hemochromatosis: Hemochromatosis is mainly associated with a defect in a gene called the HFE gene.
- Acquired hemochromatosis: It occurs as a result of certain medical conditions.

Primary Hemochromatosis
- It is inherited from their parents.
- If you inherit two hemochromatosis genes—one from each parent—you’re at risk for iron overload.
- The two faulty genes cause your body to absorb more iron than usual from the foods you eat.
- The severity of hemochromatosis also varies.

Certain factors that can affect the severity of the disease are:
- A high intake of vitamin C can make hemochromatosis worse.
- This is because vitamin C helps your body absorb iron from food.
- Alcohol use can worsen liver damage.
- Cirrhosis caused by hemochromatosis.
- Conditions such as hepatitis also can further damage or weaken the liver.

Hereditary Hemochromatosis
- It is caused by a mutation in a gene that controls the amount of iron your body absorbs.
- The mutations that cause hereditary hemochromatosis are passed from parents to children.

Gene mutations that cause hemochromatosis:
- The gene that is mutated most often in people with hereditary hemochromatosis is called HFE.
- You inherit one HFE gene from each of your parents.
- If both parents pass mutated HFE genes to you, you may develop hemochromatosis.
- The HFE gene has two common mutations, C282Y and H63D.
- Genetic testing can reveal whether you have these mutations in your HFE gene.

If you inherit two abnormal genes:
- One may develop hemochromatosis.
- Not everyone with two abnormal genes develops signs and symptoms of hemochromatosis.
- You can also pass the mutation on to your children.

If you inherit one abnormal gene:
- One won’t develop hemochromatosis.
- But your body may absorb more iron than normal.
- You are considered a gene mutation carrier and can pass the mutation on to your children.

How hemochromatosis affects your organs?
- Patients with hereditary hemochromatosis may absorb as much as 30 percent of the iron that is ingested.
- Your body can’t use or eliminate this extra iron, it’s stored in the tissues of major organs, especially the liver.
- Eventually you may accumulate five to 20 times as much iron as normal.
- Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.

Other types of hemochromatosis

Juvenile hemochromatosis
- This causes the same problems in young people that hereditary hemochromatosis causes in adults.
- Iron accumulation begins much earlier and symptoms usually appear between the ages of 15 and 30.
- Although juvenile hemochromatosis is an inherited disease, the genetic abnormalities that cause it don’t involve the HFE gene.
- It is caused by a mutation in a gene called hemojuvelin.

Neonatal Hemochromatosis
- In this severe disorder, iron builds up rapidly in a baby’s liver and can cause death.

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What are diseases that can affect liver?

Liver disease is also called hepatic disease. This is in terms of group of single number of diseases affecting the liver.

Diseases that affect Liver

Hepatitis:
- Inflammation of the liver.
- It is caused mainly by various viruses.
- It is also caused by some poisons (e.g. alcohol).
- Autoimmunity (autoimmune hepatitis).
- Hereditary conditions.
- Diagnosis is done by checking levels of Alanine transaminase.

Non-alcoholic fatty liver disease
- A spectrum in disease.
- It is associated with obesity.
- It is characterized as an abundance of fat in the liver.
- This situation may lead to a hepatitis.
- This type of hepatitis is also known as steatohepatitis and/or cirrhosis.

Cirrhosis
- It is the formation of fibrous tissue in the liver from replacing dead liver cells.
- The death of the liver cells can be caused by viral hepatitis.
- This can be due to alcoholism or contact with other liver-toxic chemicals.
- Diagnosis is done by checking levels of Alanine transaminase and Asparatine transaminase (SGOT).

Haemochromatosis
- This is a hereditary disease.
- It causes the accumulation of iron in the body.
- It eventually leads to liver damage.

Cancer of the liver
- Liver cancer is also known as hepatocellular carcinoma, HCC.
- It is a cancer that originates in liver.
- Liver cancers are malignant tumors that grow on the surface or inside the liver.
- It is also known as primary liver cancer or hepatoma.
- The liver is made up of different cell types.
- They are cancer of, for example, bile ducts, blood vessels, and fat-storing cells.
- Liver cells (hepatocytes) make up 80% of the liver tissue.
- Liver cancer is often referred to cancer that has spread to the liver that has originated in other organs.
- This type of liver cancer is called metastatic liver disease (cancer) or secondary liver cancer.

Glycogen storage disease type II
- The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body
- It affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.

Other diseases of Liver
- Wilson’s disease, a hereditary disease which causes the body to retain copper.
- Primary sclerosing cholangitis, an inflammatory disease of the bile duct, likely autoimmune in nature.
- Primary biliary cirrhosis, autoimmune disease of small bile ducts.
- Budd-Chiari syndrome, obstruction of the hepatic vein.
- Gilbert’s syndrome, a genetic disorder of bilirubin metabolism, found in about 5% of the population.

Pediatric liver diseases
- Biliary atresia
- Alpha-1 antitrypsin deficiency
- Alagille syndrome
- Progressive familial intrahepatic cholestasis

Liver diseases are caused by viruses like hepatitis A, hepatitis B, hepatitis C, cirrhosis, jaundice.

What are symptoms of primary sclerosing cholangitis?

Primary sclerosing cholangitis (PSC) is a chronic (lasting years and decades), progressive (worsening over time) disease of the bile ducts.
- This disease channelizes bile from the liver into the intestines.
- Bile is a watery liquid made by the cells of the liver that is important for digesting food in the intestine, particularly fat.
- This liquid also helps to get rid of the body of toxins.
- Liver cells secrete the bile they make into small canals within the liver.
- The bile flows through the canals and into larger collecting canals (ducts).
- The bile then flows within the intrahepatic bile ducts out of the liver and into the extrahepatic bile ducts.
- From the extrahepatic bile ducts, the bile flows into the intestine where the bile mixes with food.

In primary sclerosing cholangitis :
- The intrahepatic and extrahepatic bile ducts become inflamed,
- scarred and thickened (sclerotic),
- narrowed,
- finally obstructed.

Obstruction of the ducts can lead to:
- abdominal pain,
- itching,
- jaundice,
- infection in the bile ducts (cholangitis),
- liver scarring that leads to liver cirrhosis,
- liver failure.

Symptoms of primary sclerosing cholangitis:
- Most patients with early primary sclerosing cholangitis have no symptoms.
- The presence of primary sclerosing cholangitis is recognized only because of abnormally elevated blood levels of liver enzymes (particularly alkaline phosphatase levels).
- This is often recognized along with a routine physical examination.
Early symptoms of primary sclerosing cholangitis include
- Fatigue
- bodily itching (pruritus)

With the progress of the disease:
- Patients may develop jaundice (yellowing of skin and darkening of urine).
- Jaundice is due to the accumulation of bilirubin in the body.
- The bilirubin accumulates because it is not able to be eliminated in the bile.
- This is due to prolonged obstruction of the bile ducts.
- The accumulation of bilirubin turns the skin and whites of the eye (sclera) yellow.
- It may be due to accumulation of bile salts in the body.
- It is as a result of obstruction of the bile ducts.

As primary sclerosing cholangitis progresses, patients typically develop:
- Right upper abdominal pain,
- Fever,
- Fatigue,
- Pruritus
- Jaundice
- These patients also are at risk of developing primary sclerosing cholangitis complications.
- The patients with the autoimmune form of primary sclerosing cholangitis have more rapid symptoms of abdominal pain, jaundice and fever.