A condition known as hemochromatosis causes undesirable amounts of iron to accumulate in the body.
Your body requires iron in order to remain healthy, to form red blood cells, muscle, and heart cells, and to accomplish the daily duties required by your body and internal organs. However, too much iron is harmful.
The human body will generally regulate how much iron is taken in from what is eaten, increasing the intake if there is a requirement and reducing it if there is already an excessive amount of iron in the body. In hemochromatosis, the dietary intake of iron is exceeded by the body’s absorption rate.
If left untreated, hemochromatosis can lead to an accumulation of iron, which can be detrimental to multiple areas of the body including but not limited to the liver, heart, pancreas, glands in the endocrine system, and joints.
Are there different types of hemochromatosis?
Hereditary hemochromatosis, also known as primary hemochromatosis, is the result of genetic mutations that regulate the degree of iron absorption from what is consumed.
Secondary hemochromatosis, also referred to as secondary iron overload or hemosiderosis, occurs when there is an excessive amount of iron in the diet or a large quantity of iron is received via blood transfusions intended to treat severe anemia.
Neonatal hemochromatosis is a uncommon disorder that originates from damage to the liver of a baby while in the uterus. This type of liver damage results in an excess of iron being stored up in the liver and other organs.
How common is hemochromatosis?
Mutations in the HFE gene are usually the cause of the majority of hemochromatosis cases. The C282Y alteration is the single most widespread mutation that leads to hemochromatosis. It is possible that a change in the HFE gene (H63D) could be a cause of iron accumulation. Individuals who possess two C282Y genes are most likely to suffer from iron overload. Individuals inheriting one instance of H63D and one instance of C282Y may occasionally have an iron overload, although it is not as frequent and the effects are usually less significant.
Approximately 6.67 percent of Northern European ancestry individuals have at least one copy of the C282Y variation present in their HFE gene. Approximately 1 in every 225 individuals in this community holds a double copy of the gene, which increases their susceptibility to suffering from hemochromatosis. It is not as frequent for individuals of Asian or African descent to suffer from primary hemochromatosis, since the C282Y gene mutation is not found as often in these populations.
Who is more likely to have hemochromatosis?
Caucasians are more liable than any other racial group to suffer from hemochromatosis since the C282Y gene mutation appears predominantly in this population.
Males and females are both just as probable to possess C282Y genetic alterations, however men are more probably going to encounter excess iron storage and the side effects that arise from having hemochromatosis. Those with alterations in their gene may accumulate high amounts of iron in their bodies over many years. Symptoms do not typically develop before age 40. Generally, women experience indicators of the disorder a decade later than men, usually after they go through the period of menopause. The consequence of menstruation that causes women to experience blood loss and lower iron levels are the distinguishing factors between men and women.
People with the C282Y mutations are more likely to experience severe iron overload, associated symptoms, and related complications of hemochromatosis if their lifestyle and health are not taken into account. These include
What are the complications of hemochromatosis?
Failing to seek help for hemochromatosis can result in an excessive accumulation of iron in the body, potentially causing liver and other bodily issues.
Cirrhosis
Cirrhosis causes healthy liver tissue to be replaced with scar tissue, which disrupts the liver’s normal functioning. The scarring of the liver impedes the circulation of blood through it. As cirrhosis gets worse, the liver begins to fail.
Liver failure
Cirrhosis can culminate in liver failure, also termed end-stage liver ailment. Your liver is so badly damaged that it is unable to function properly in the case of liver failure. Individuals with liver malfunction may necessitate a liver transplantation.
Liver cancer
Cirrhosis increases your chance of getting liver cancer . Your physician could propose blood analyses and a sonogram or any other type of imaging examination to confirm for liver cancer. The likelihood of success in treating cancer increases if it is discovered in its infancy.
Other complications
Iron toxicity can cause harm to multiple organs, not only the liver, including the joints, pancreas, heart, and reproductive glands. This damage can lead to
Complications of hemochromatosis include arthritis.
What are the symptoms of hemochromatosis?
The accumulation of too much iron in the body can cause signs and symptoms of hemochromatosis, such as
- feeling tired or weak
- pain in the joints, particularly in the knees and hands
- loss of interest in sex or erectile dysfunction
- pain in the abdomen over the liver
- darkening of skin color, which may appear gray, metallic, or bronze
In cases of heavy iron overload, people may experience complications like cirrhosis, diabetes, or heart failure.
It is possible that some people with hemochromatosis may not experience any effects, and the condition may remain without any manifestations for an extended period. Generally, signs and symptoms of Parkinson’s disease are seen after the age of 40; however, women tend to exhibit such signs approximately 10 years after men experience them. 5,6
What causes hemochromatosis?
Primary hemochromatosis
Significant changes in genes that affect how iron is absorbed in the body are the primary cause of hemochromatosis. The two most typical modifications to the HFE genes are C282Y and H63D.
This condition involving HFE mutations must be inherited through two copies of the HFE gene that have a mutation in order for someone to have hemochromatosis, and this is an autosomal recessive disorder. The most frequent occurrence of primary hemochromatosis is when a person has two copies of the C282Y gene. In the vast majority (85-90%) of occurrences of primary hemochromatosis, there are two instances of C282Y. There is another type of iron overload that is less frequent and is usually not as severe. It is caused by a person having one mutant copy of the C282Y gene and one copy of the H63D gene.
Approximately 10 to 15 percent of primary hemochromatosis is due to mutations in other genes that control the body’s iron management. 3 These rare forms are called non- HFE hemochromatosis. The harshest kinds of non-hereditary hemochromatosis are caused by changes in either the HJV or HAMP genes. Individuals with these alterations experience signs and side effects at an early age, potentially resulting in cirrhosis and different issues from surplus iron by the time they are adolescents.
Secondary hemochromatosis
Excessive iron intake from dietary sources or through multiple blood transfusions is a cause of secondary hemochromatosis.
Secondary hemochromatosis is usually brought on by excessive transfusions of blood for anemia issues such as sickle cell anemia and thalassemia. Furthermore, individuals with intense marrow breakdown and extreme anemia could necessitate frequent blood transfusions dispensed over a long period of time. Transfusions of red blood cells can lead to an accumulation of iron in the body to an excessive amount due to the high iron content in red blood cells. There is no convenient way for the body to eliminate iron.
Neonatal hemochromatosis
Newborns are prone to a highly unusual disorder known as neonatal hemochromatosis, which can cause cirrhosis and liver failure. In the majority of scenarios, neonatal hemochromatosis is caused when a mother’s immune system produces antibodies that harm a baby’s liver, resulting in an overload of iron.
A female who has produced a baby with neonatal hemochromatosis is in danger of giving birth to a second or third infant with the same problem. Physicians can provide medical care to women during any subsequent pregnancies to avoid neonatal hemochromatosis.
Juvenile Hemochromatosis
Juvenile hemochromatosis is an infrequent hereditary predicament noted for the buildup of iron in different organs of the body. In most people, signs of the disorder appear prior to 30 years of age, though some may not experience its effects until later in life. The signs and level of intensity of juvenile hemochromatosis differ from individual to individual. The regular signs of Congenital Adrenal Hyperplasia are low or no reproductive hormone output in men or women (hypogonadotropic hypogonadism), heart issues, scarring of the organ (cirrhosis), joint afflictions, diabetes and darkened sections of the skin (hyperpigmentation). If untreated, juvenile hemochromatosis can potentially cause life-threatening complications. Hereditary juvenile hemochromatosis is caused by a change in either the HJV or HAMP gene. Juvenile hemochromatosis is inherited in an autosomal recessive manner.
The signs and conditions similar to those caused by classic hereditary hemochromatosis, which is connected to HFE, can also be seen in juvenile hemochromatosis. Nevertheless, juvenile hemochromatosis is a different illness, beginning at a more youthful age and is usually more severe compared to hemochromatosis rooted in the HFE gene.
Signs & Symptoms
Differences in signs and how severe they are from one person with juvenile hemochromatosis to the next, even among members of the same family, can vary. Significant indications consist of diminished hormonal gland activity in the reproductive organs and affliction of the heart, liver, and joints. In some people, signs that are not easily identifiable or cannot be pinpointed may be present before more serious problems arise. One might feel tired, enduring aches in the joints, as well as displaying a loss of appetite, before other more noticeable indications appear. If not addressed, juvenile hemochromatosis can create serious, potentially lethal issues.
The effects of juvenile hemochromatosis can typically be seen before the age of 30. Very infrequently, some people have not exhibited any signs until they reach their thirties.
Hypogonadotropic hypogonadism is a state in which the gonads, either the testes for males or the ovaries for females, show either no functionality or a reduced degree of functionality. A lack of gonadotropic hormones can lead to postponed maturation, disappearance of sexual fur, impotence in males (erectile dysfunction), and for young women who have already begun menses, cessation of the menstrual cycle for a period of up to six months (secondary amenorrhea). A diminished libido and sterility may also be connected with this situation. Long-term decreased levels of testosterone can cause weakened bones (osteopenia) and fragile bones that are easily broken (osteoporosis).
Heart abnormalities can develop in individuals with juvenile hemochromatosis. Individuals with juvenile hemochromatosis can often end up with cardiomyopathy, arrhythmias, and even failure of the heart. Proper processions can avert the growth of coronary disease or enhance heart wellness; yet, without the accurate iron eliminate handling, sudden death as a result of cardiological issues can happen. In some cases, juvenile hemochromatosis may only be revealed by discovering cardiovascular issues in patients.
More symptoms related to juvenile hemochromatosis consist of dark spots on the skin becoming more pronounced, painful joints, and damage to the liver ultimately resulting in an enlargement of the organ and scarring.
Patients with juvenile hemochromatosis can also have diabetes. Diabetes is a prevalent problem that causes the body’s inability to make adequate amounts of insulin or to make use of the insulin that is produced. The clearest indications of the condition are an abnormal level of thirst and frequent urination. Unregulated diabetes can bring about serious medical issues, like heart disease. People who have both diabetes and juvenile hemochromatosis should have separate treatment plans for each condition.
On rare occasions, people affected by this may have a thyroid that isn’t producing enough hormones (hypothyroidism) or an issue producing cortisol and aldosterone steroid hormones (adrenocortical inadequacy).
Related Disorders
Different medical conditions exist that share similar lab tests results or symptoms that are associated with juvenile hemochromatosis. These are the root causes of iron overload, a set of illnesses wherein iron builds up inside the body. The indications of primary troubles of excessive iron accumulation regularly incorporate exhaustion, stomach torment, loss of sexual drive, joint inflammation, and heart imperfections, in spite of the fact that the particular manifestations related to these issues can fluctuate dependent upon the area and degree of iron grouping. In addition to youthful hemochromatosis, other primary conditions involving an excessive amount of iron include atransferrinemia, African iron overload disorder, classic inherited hemochromatosis related to the HFE gene, TFR2 -related hereditary hemochromatosis, and ferroportin illness. To learn more about the disorders, use the Rare Disease Database and enter the name of the disorder you want to know about.
Diagnosis
Getting a diagnosis of juvenile hemochromatosis quickly and starting treatment right away are crucial. This may help to avoid permanent harm to organs and stop the potentially fatal consequences that arise from too much iron being kept in the body. A diagnosis of the disorder can be made through an in-depth clinical assessment; recognizing visible signs (such as enlarged liver, diabetes, altered skin pigmentation, heart issues, reduced hormone levels, and/or joint issues), a full patient background, and a detailed family history in addition to specific tests.
If there is a feeling that juvenile hemochromatosis is present, blood tests will be conducted to examine the amount of iron in the blood and a particular iron compound used to show the amount of iron the body contains (serum ferritin levels). Blood tests can also detect increased transferrin saturation. Transferrin is a protein that transports iron from the intestine to the bloodstream.
Furthermore, specialized scans such as magnetic resonance imaging (MRI) may demonstrate an increased heaviness of the liver generated by iron buildup. A Magnetic Resonance Imaging machine creates detailed pictures of certain internal body parts and tissues using a magnetic field and radio waves. A liver biopsy may also be employed to help determine juvenile hemochromatosis. A liver biopsy involves taking specimens of liver tissue and evaluating them through a microscope to look for excess iron saved and if cirrhosis is present.
Genetic testing can be conducted to verify whether someone has juvenile hemochromatosis, which will show any mutations in the HJV or HAMP genes that cause the condition. Molecular genetic testing is available on a clinical basis.
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