Hemochromatosis Diagnosis

Today we talk about the diagnosis of hemochromatosis both primary and secondary (also called hemosiderosis).

The heck of this type of iron overload disease, is diagnosed late, usually after 40 years, with the early diagnosis of more than 50 years. Unfortunately this type of disease enrolled in a silent until a complication arises, and it is this that triggers the diagnosis.

Diabetes, problems with libido, hypogonadism, heart disease, hepatomegaly, fatigue, fatigue, a strong color, like brown. Even just find with elevated transaminases, our doctor makes a painting is to be discovered who triggers it.



And if an elevated ferritin (iron stores), and / or a high transferrin saturation, it is suspicious that we find an iron overload.

If we ferritin> 1000 and transferrin saturation greater than 55%, and we have 40 years or more, proceed a liver biopsy to see accurately the state of our livers, to see if it suffers from excess iron, thus quantifies the deposits of iron, and tell us if we find a state of significant liver damage.

Finally, to avoid the painful liver puncture is increasingly used magnetic resonance imaging.

Often seems fibrosis, in many cases, including liver cirrhosis, which is a stage of hepatic very important, being irreversible, but with good treatment and care for our part we can delay or slow its development.



I do not want to alarm many, but it is very important for you to take awareness of the importance of early diagnosis, as many complications would be eliminated if we move forward in time.

The best marker is the saturation of transferrin, a figure above 55%, is the starting point to begin studying this disorder.

Once we have a very suspicious fact, our specialist can request a genetic test to show that the origin of iron overload is genetic.

They seek the most frequent mutations. And usually we find the most common.

If we get a homozygous mutation, we have the diagnosis confirmed in previous chapters I discussed the mutations, can take a look at the month of agosto/11.

It is also very normal to find a normal gene with no mutations, and overloads all stems from these mutations, we might have other mutations, not yet well studied, and may not be as of Today show, or simply that we find no genetic overload.

So you do have a secondary stress, is often called secondary hemochromatosis and hemosiderosis some name it.

Normally this kind of overload is due to previous transfusions or excessive alcohol intake, but there are many more cases of multi-source overhead.

But an important point in this is that a good diagnosis, as early as possible that the disease will not progress and timely treatment to prevent complications or slow down the already present.

Realize that if we can diagnose hemochromatosis soon, it will almost certainly give us no complications, and have a life expectancy equal to the rest of the population, and most importantly with very good quality of life.

I hope to serve you help and support.

A hug.