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Haemochromatosis - Approaches and treatment strategies

Digestion, General | October 29, 2014 | Author: The Super Pharmacist

general

Haemochromatosis - Approaches and treatment strategies

Haemochromatosis is a condition in which the body suffers from an excess of iron. This metal, in certain molecular forms, is in fact vital for the health and functioning of many body tissues.

One of its more important purposes is the transport and supply of oxygen throughout the vascular system. This is achieved by a protein containing atoms of iron called haemoglobin, which binds oxygen and delivers it to body tissues as needed through the medium of red blood cells. Iron deficiency is associated with the better-known condition of anaemia, but an overdose of iron may also be a serious health concern.

An excess of iron molecules in cells or tissues may be associated with the onset of many conditions and symptoms, including:

Cirrhosis of the liver

This is a condition in which progressive liver damage is the result of protracted exposure to substances the organ must regulate or detoxify, including excess iron. A healthy liver is able to complete these functions up to a certain point. 

However, a combination of an unrelenting influx of the substance in question, certain genetic factors, deteriorating health and/or reduced fitness increases the probability of cirrhosis. A cirrhotic liver may have characteristic yellowish blemishes (formed by scar tissue) whereas a healthy liver has a smooth, uniform surface of a reddish-brown colour. In cases of advanced cirrhosis, the liver may be deformed and enlarged to the extent of a noticeable abdominal swelling. The risk of haemochromatosis-related cirrhosis is also increased by behaviours that put additional stress on the liver, such as alcohol abuse.

Diabetes

The accumulation of iron in the cells of the pancreas that control insulin prodution, islet cells, may increase the probability of the onset of diabetes. In these cases, the condition may be known as late-onset type I diabetes, as it is not caused by metabolic dysregulation associated with diet (i.e. type II diabetes).

Cardiomyopathy

This is progressive deterioration or damage to heart muscle tissue, which may be associated with many factors including iron overload. Cardiomyopathy may increase the risk of cardiac disorders that affect the heart rate or ability to pump blood around the body. In severe cases, this may also lead to heart failure.

Arthritis/arthropathy

Haemochromatosis may result in the accumulation of iron in the protective material around joints known as synovial fluid, causing chronic pain in these structures. Patients may also develop joint movement difficulties.

Rare symptoms/complications

In some isolated cases, failure of the thyroid and parathyroid, glands which regulate a variety of body functions, such as body temperature regulation, may occur due to iron accumulation. This may result in a range of symptoms, including fatigue, lack of bodyweight control and mood swings. Patients with hereditary haemochromatosis (see below) may not present with the more common symptoms as listed above, but may experience other complications such as:

  • Abdominal pain
  • Liver cancer
  • Hypogonadism
  • Impotence
  • Increased skin pigmentation that gives a more 'bronzed' appearance
  • Joint swelling
  • Lethargy/weakness
  • Menstrual dysfunction
  • Osteoporosis
  • Sexual dysfunction
  • Weight loss

Causes of Haemochromatosis

This condition may be more common than previously thought, and is particularly prevalent in Caucasian men. The majority of haemochromatosis cases are linked to two major factors: Genetics and blood transfusion.

Genetic predisposition

Hereditary haemochromatosis is a condition in which inherited mutations in the HFE gene is associated with the accumulation of iron in the body. It is associated with late-onset type I diabetes.

Hereditary haemochromatosis may be more prevalent than currently thought by many medical professionals; estimates suggest one in approximately 230 people from Northern Europe have a mutation in HFE. However, severe symptoms such as organ damage occur in approximately 10% of these people.

 

Blood transfusion

This is a standard treatment for severe cases of hereditary or aplastic anaemia. Iron overload may result from regular transfusions due to the influx of ferroproteins, or natural biological molecules that contain iron.

Diagnosing Haemochromatosis

Haemochromatosis may be diagnosed using several different methods, including:

DNA Analysis. Mutations in the HFE gene may be detected using techniques that analyze the DNA in patient samples.

Protein Analysis. Haemochromatosis may be diagnosed via detection of high levels of ferroproteins, such as transferrin and ferritin, in the blood. A high ferritin level (1000 ng/ml or more) is associated with the increased risk of cirrhosis. However, transferrin analysis may be associated with reduced accuracy in detecting hereditary haemochromatosis.

Liver Biopsy. This extraction of liver tissue for laboratory analysis is an effective tool in the detection of cirrhosis, high levels of ferroproteins. This is particularly useful in detecting haemochromatosis in patients without HFE mutations.

MRI. Magnetic resonance imaging is a non-invasive technique in which iron deposits in organs and tissues may be visualised.

X-ray analysis. This is another imaging-based tool used to diagnose arthritis or arthropathy caused by iron accumulation.

Management/Treatment of Haemochromatosis

Emerging/potential treatments

Hepcidin is a protein that plays a role in dietary iron absorption from the gastrointestinal tract, and the release of iron from cellular stores in the body. Therefore, drug therapy targeting hepcidin or the proteins that regulate it, in turn may prove an effective treatment for haemochromatosis. Screening tools that detect hepcidin levels may also form a novel diagnostic method in the future.

Phlebotomy

This is a process of removing a certain volume of blood (i.e. blood-letting), performed by a medical professional or licensed technician. However, phlebotomy is often followed by a strong urge to consume iron-rich foods, thereby negating the effects of blood-letting and potentially re-establishing haemochromatosis.

Obviously, this is not a suitable treatment for patients with severe anaemia.

Chelation

This is a technique by which substances that can bind to metal particles in the body, in order to excrete them safely, are administered in cases of overdose or toxicity. Chelating agents that may reverse haemochromatosis include:

  • Desferal
  • Clioquinone
  • Deferiprone
  • Deferoxamine
  • Deferiprone/deferoxamine combination therapy

Drug therapy

As with other forms of arthritis, drugs are often used to treat joint pain and/or stiffness caused by haemochromatosis. These include oral non-steroidal anti-inflammatory drugs (NSAIDs). In severe cases, steroid medications may be injected into the joints affected.

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References

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Yeap BB, Divitini ML, Gunton JE, et al. Higher ferritin levels, but not serum iron or transferrin saturation, are associated with Type 2 diabetes mellitus in adult men and women free of genetic haemochromatosis. Clinical endocrinology.2014.

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