Hemochromatosis (HCC) is disease caused by increased Iron content in the body. People suffering from HCC absorb extra amounts of iron from the daily diet. Human body has particular difficulty in removing extra iron. Therefore, over period of time these excesses build up in major organs such as heart, liver, pancreas, joints and pituitary gland. Extra iron in organs causes different diseases, and untreated hemochromatosis can be fatal.
Iron is nutrient found in many foods. Its primary function is to carry oxygen through hemoglobin to all parts of the body. Normal human body absorbs 10% of the iron for the food in daily diet. However, people with HCC can absorb four times the amount. Since the body cannot excrete the iron, the metal can reach toxic levels in tissues of major organs.
Therefore, undiagnosed and untreated HCC dramatically increases the risk for diseases and conditions such as: diabetes mellitus, irregular heartbeat, arthritis , cirrhosis of the liver or liver cancer, depression, impotence, infertility, hypothyroidism, hypogonadism, and cancers. Untreated levels on iron also causes neurodegenerative diseases: Alzheimer's , early onset Parkinson's, epilepsy, multiple sclerosis, and Huntington's disease.
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Hemochromatosis is classified by type depending on the age of onset and genetic cause and mode of inheritance. Type -1 is the most common form of the disorder, and type 4, also referred as ferroportin disease, are adult- onset disorders. Men with type 1or type 4 HCC typically develop symptoms between the ages of 40 and 60, whereas the women develop symptoms after menopause. Type 2 is juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may begin to apperar in childhood. By the age 20, decreased secreation of sex hormone is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or sex hormone deficiency symptoms such as impotence. If the disorder is untreated , heart disease is evident by the age of 30. Type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms usually begin before age 30. Sometimes iron overload begins before birth and theses cases are called neonatal hemochromatosis. This type is characterized by liver damage that is apparent at birth or in the first day of life.Symptoms
Although, symptoms may occur early in life first signs of hereditary hemochromatosis usually appear in midlife between ages of 30 and 50. Hereditary HCC may cause a variety of symptoms such as: fatigue, abdominal pain and impotence, but the most common comlaint is joint pain. On the other hand, some people never experience symptoms. Women are more likely to have symptoms after menopause, when they no longer lose iron with menstruation and pregnany.
Early-stage signs and symptoms- of hereditary hemochromatosis typically resemble those of many other common conditions: arthritis in hands, chronic fatigue, loss of sex drive or impotence, abdominal pain, high blood sugar levels, low thyroid function, abnormal liver function tests.
Advanced- stage signs and symptoms- of hereditary hemochromatsis develop serious conditions: cirrhosis- marked by irreversible scarring of the liver, liver failure, liver cancer, diabetes, congestive heart failure, cardiac arrhythmia, discolored skin that's bronze or gray in appearance. People at highest risk are people of 25 years of age and the one's that have an immediate family who has hemochrmatosis .
Genes related to Hemochoromatsis-
Mutations in HAMP, HFE, HFE2, SLC40A1 and TFR2 genes causes hemochromatosis. These genes play an important role in regulating the absorption, transport, and storage of iron. Mutation in these genes impair the control of iron absorption during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organ. Each type of HCC is caused by mutations in specific genes. Type 1 is caused by mutations in the HFE gene, and type 2 is caused by HFE2 or HAMP gene. Type 3 is caused by TFR2, whereas type 4 is caused by SLC40A1 gene. The cause of neonatal hemochromatosis is unknown.
All three types of hemochromatosis are inherited autosomal recessive diseases, which means both copies of the gene in each cell have mutations. Parents of an individual with an autosomal recessive condition carry one copy of mutated gene, but do not show any signs or symptoms of the condition. However, type 4 hemochromtosis is gene in each cell is sufficient to cause the disorder. Usually, an affected person has one parent with the condition.
People at most risk are the one that are having two copies of a mutated HFE gene. This is the greatest risk factor for hereditary hemochromatosis. Second, is the family history. If the person have close relative a parent or a sibling with HCC it is more likely to get it. Third, ethnicity plays important role as well. People of Northern European decent British, Ductch, German, Irish and French are more prone to hereditary HCC then other ethnic backgrounds. Fourth, being a man increases chances of developing HCC especially at earlier age.
Cirrhosis -Liver is a primary storage area for excess iron, it is prone to injury by long term iron overload. Its is defined as permanent scarring of the liver, that can lead to serious bleeding from dilated veins in esophagus and stomach and severe fluid retention in abdomen. Also toxins that accumulate in the blood can affect mental functioning, leading to confusion and even coma. Cirrhosis can be caused from long term alcohol abuse and chronic hepatitis.
Liver cancer-a person with cirrhosis and hereditary HCC is at high risk for liver cancer .
Diabetes-is disease that affects the way body uses glucose. It is a leading cause of adult onset blindness and can contribute to serious health problems such as kidney failure and cardiovascular disease.
Congestive heart failure- is a life threatening condition that occurs when excess iron in heart interferes with its ability to circulate enough blood to meet body's needs. Untreated congestive heart failure can be fatal, but the condition can be corrected when HCC is treated and excess iron stores are reduced. Abnormal heart rhythms can cause chest pain and lightheadedness. In some instances it can be fatal, and like congestive heart failure it can be reversed with treatment.
Pigment changes- deposits of iron on the skin cells can turn skin bronze or gray color.
Test and Diagnosis
Hereditary hemochromatosis can be difficult to detect. Early symptoms such as stiff joints and fatigue can result from a number of conditions that are more common than HCC. Iron overload can be detected with two blood tests:
Serum transferring saturation- test that measures the amount of iron bound to a protein that carries iron in the blood. Transferrin saturation values greater than 45% are considered too high.
Serum ferritin- test measures the amount of iron stored in the body. Doctors usually go for serum ferritin test after serum transfetting saturation test came high. Many infections and inflammatory conditions other then hereditary HCC can cause elevated feritin, both of these tests are needed to diagnose the disorder. These tests are not part of routine medical testing. Public Health officials recommend these test if the person is experiencing joint disease, severe fatigue, heart disease, elevated liver enzymes, impotance, and diabetes.
Genetic testing- discovery of the HCC gene made genetic testing possible. Some doctors advocate universal screening for HFE gene mutation. They believe that HCC is common condition that can cause serious complications when it's not treated.
Liver biopsy- until recently was the only way to confirm a diagnosis of HCC. In the procedure , a sample of tissue from your liver, using a needle , is removed. The sample is send to the laboratory where the presence of iron as well as liver damage, cirrhosis is observed. Risks of biopsy include bruising, bleeding and infection.
Blood removal- hemochromatosis is safely and effectively treated by removing blood on a regular basis. The main goal is to reduce iron to normal levels. The amount of blood drawn depends on age, overall health and the severity of iron overload.
Treating hereditary hemochromatosis before damage of organs occurs prevents serious complications such as liver disease, heart disease and diabetes. If the person has one of these conditions, phlebotomy may slow the progression of the disease, and in some cases even reverse it. People with cirrhosis are often monitored for liver cancer with a d abdominal ultrasound and an alpha-fetoprotein blood test every six months.
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