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Hemochromatosis type 1 Definition, Signs & Symptoms, health issues, Prevention, Causes and mechanisms

Definition of hemochromatosis

The type 1 hemochromatosis is an iron overload in the body by increasing the intestinal absorption of dietary iron. It is an autosomal recessive genetic disease, by mutation of the HFE gene that regulates the digestive transfer of dietary iron.

It is often misunderstood and is revealed mostly belatedly after 40 years first in men. In women, menstruation (menses) limit the expression of the disease until menopause.

It is not present in the black African populations nor the populations of Southeast Asia; but that can change with the global mixing.

Symptoms and health issues of hemochromatosis

The frequency of the disease is estimated in Western and Northern Europe to a patient for 200 or 300 people; it's a lot and uncertain because most patients are unaware that they are achieved. The figures are hypothetical, because of late diagnosis, or not at all when the expression of the disease is low.

However the length and quality of life of untreated patients is reduced because of:

Involvement of the liver first

- Cirrhosis, which can lead to cancer, especially if there are risk co-factors (chronic hepatitis B or C, chronic alcoholism ...)

The achievement of the pancreas in addition to the liver

- Diabetes increased by the usual risk factors (dietary imbalance, physical inactivity)

Involvement of the heart

- Heart failure and arrhythmias

The achievement of the sex glands

- Subfertility and sexual dysfunction (impotence)

The achievement of the skin

- The skin complexion is a metal "bronze" grayish.

Joint involvement

- These disorders are early and often related to its true cause, the source of pain and disability in everyday life.

Causes and mechanisms of hemochromatosis

This autosomal recessive hereditary disease is almost always caused by a mutation of the HFE gene, which produces hepcidin, a hormone regulating the digestive absorption of iron.

A so-called C282Y mutation affects almost 100% of cases and 70 to 95% of European patients. Obvious patients are usually carrying a double mutation C282Y: 6 came on the chromosome of their father and on chromosome 6 came from their mother. They are called homozygous for the mutation.
Holders of a single mutation in one of their two chromosomes 6 are called heterozygous; they have little or no suffering, so even less often diagnosed.

Penetrance of the mutation (expression) is very variable, so its gravity; severe cases are rare in practice.
But as the mutation is common in the general population (5 to 10% of heterozygous mutations), the risk that a man and a woman have children together with is great.

Normally, only 5 to 10% of dietary iron is absorbed from the gastrointestinal tract, or 1 mg / day roughly corresponding to the daily losses (one liter of blood contains 500 mg of iron). Hepcidin limits this iron entrance.

In his absence, the absorption increases freely. Among adolescent women, the menstrual blood flow more or less correct this increase in gastrointestinal absorption. This correction disappears at menopause.

What are the signs of the disease?

The accumulation of iron in the body first saturates the liver which is the natural reserve of iron, then the pancreas.

Iron deposits in joints cause chronic pain.

The muscles are in turn achieved, including the heart muscle. This explains heart failure and chronic fatigue hemochromatosis.

Unfortunately for them, in the absence of correct diagnosis on their prescribed iron and vitamins, including vitamin C, to "get back"; or vitamin C increases the absorption of iron, which is itself in excess. Therefore aggravates poisoning wanting to do well.

One cause paradoxical and known as hemochromatosis is iron supplementation in anemic or blood transfusions from undiagnosed patients.

The disease is labeled in four stages of increasing severity: I, II, III and IV, as the importance of achieving organs: liver, pancreas, heart, sex glands, muscles, joints ...

    In Stage 1, shows no sign of disease, even blood tests are normal. This is the stage of young patients before 15-20 years. Women do not express the disease or rarely before menopause.
    In stage II, the disease is still not visible but the blood abnormalities are present from 20 years. One of the first signs is the painful joint handshake.
    In stage III, blood abnormalities are revealed during a balance sheet to the signs of the disease appear around age 30 in men later in women:
    asthenia (fatigue) chronic joint pain and inflammation, liver cirrhosis, heart disease or sexual dysfunction (impotence).
    Stage IV is the stage where the achievement of various organs is clear and irreversible, usually after 40 years later in women.

With what should we be confused?

    Rheumatic fever as gout or chondrocalcinosis; especially as the joint symptoms of hemochromatosis occur more around 40 years and think rather to the "joint aging" as a former chronic disease.
    The liver damage from alcohol or viral hepatitis may unduly disrupt explorations when the doctor is satisfied with this explanation. Or there may be excessive alcohol and hemochromatosis, given its frequency in the population.
    Take diabetes for hemochromatosis for general overhead while diabetes is an iron overload.

Will it possible prevention of type 1 hemochromatosis?

Because of the frequency of this genetic disease in the population, routine screening is feasible in the population, at birth or later after 40 years when the disease clearly revealed. However, this option was not chosen until now.

It is therefore the opportunity during a family survey around a diagnosed cases.
In heterozygous people, almost not affected, dietary advice may be sufficient to scarce bloodletting.

When to see the doctor?

In case of permanent fatigue and joint pain, and whenever we know or doubt of a close family member that would be achieved.
It is important to make the diagnosis early because the treatment is not effective when the organs are damaged, that is to say, in stage III and IV.

What does the doctor?

It conducts a complete physical examination, seeking joint damage characteristic of hands and liver and heart damage, which are the most urgent to know.

A battery of tests done things in perspective. But only two tests are needed to diagnose the disease in a non-inflammatory context:

    the transferrin saturation, if hemochromatosis is the early stage (I)
    and ferritin levels in the blood (serum ferritin) if the disease is already later stage (II, III or IV).

The definitive diagnosis is made ​​by genotyping the patient and the review of the HFE gene mutation involved. If he confirms the genetic disease, we proceed to a family survey (first degree relatives) with the patient's consent, to know the mutation carriers and provide support after full assessment.

For parents waiting for a child, genotyping of the parents figure the risk of transmission to the child.

Treatment is by regular bloodletting: every three months at least, every week if needed in the beginning. Possibly one resorts to iron chelators to quickly reduce intoxication.

This treatment is only effective before achieving proven organs, particularly the liver cirrhosis. Hence the importance of family to detect treatable patients inquiry quickly and avoid complications.

How to prepare the medical consultation?

By collecting family data to rule out or talk hemochromatosis, on one hand, and blood tests over time if we kept them.

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