“Hemochromatosis kills without warning because most of the people affected were unaware that they were affected.”
We often talk about iron deficiency, much less about the opposite phenomenon: iron overload, medically called hemochromatosis. This excess iron which accumulates little by little in the body without being able to be evacuated, is deposited in different organs which can cause health problems. This disease is fatal: more than 200,000 people are affected in France and more than 2,000 men and women die from it each year (3 times more men than women (regular blood loss due to periods protects women by reducing iron stock)). Although this genetic disease is the most common in France, this silent killer remains poorly understood, in particular because of non-specific and very variable symptoms, often responsible for late diagnosis. “Hemochromatosis kills without warning, because most of those affected were unaware that they were affected, even though this genetic disease is very easy to detect.” writes Dr Michel Lenois, general practitioner in his book Hemochromatosis: when too much iron kills (ed. Mosaïque Santé). Without being able to explain it, some people do not present any disorder, while others have more or less severe symptoms.
An increase in transaminases
When there is an excess, iron is stored in large quantities in the liver, which can also be quantified using an MRI. “The most common consequence of excess iron in the liver is hepatomegaly, that is to say an increase in liver volume. Generally moderate, it can be isolated or accompanied by blood abnormalities, in particular an increase in an enzyme present in liver cells called ALT transaminase.“, explains Dr Lenois. The main complication is cirrhosis (possible even without alcohol abuse) which can, ultimately, develop into liver cancer.
A painful “handshake”
Joint damage is common in cases of hemochromatosis. It often results in joint pain (arthralgia) which is sometimes accompanied by inflammation: in this case, the joint is swollen, hot and much more painful. “All joints can be affected, but the most common injuries are those of the hips and hands. [….] with pain generally felt at the joints at the base of the first phalanges of the index and middle fingers (metacarpophalangeal joints). For these same fingers, there is also pain in the joints between the first two phalanges“, describes the doctor. This pain is mainly aroused by pressure, for example when shaking hands.
A grayish complexion
The most notable symptom of hemochromatosis is the appearance of skin discoloration in gray, or more rarely brownish, tones. We are talking about melanoderma, which is especially marked on exposed areas (face, neck, forearms), as well as on the genitals and at the level of scars. It can also cause thinning of the skin, as well as loss of pubic hair and hair.
Shortness of breath at the slightest effort
Iron that accumulates in the heart muscle can cause heart failure, resulting in permanent fatigue (asthenia) and shortness of breath during exercise. It can also “cause electrical conduction disorders in the heart, which result in very rapid and often anarchic heartbeats (atrial or atrial fibrillation). Untreated, this fibrillation leads to a significant risk of stroke“, warns the expert.
A significant thirst
“The accumulation of iron in the pancreas leads to the destruction of the cells producing insulin, which will result in type 1 diabetes, as opposed to type 2 diabetes, due to another mechanism (incorrect use of iron). insulin by the body’s cells)“, explains Dr. Lenois. Diabetes due to hemochromatosis results in significant thirst, passing copious amounts of urine and often weight loss. Treatment of type 1 diabetes requires the administration of insulin to to replace the one that is no longer produced.
The disappearance of periods in women
Excess iron can also be deposited in the pituitary gland, whose secretions control almost all of the other glands in the body. This can disrupt their functioning and have repercussions on the ovaries and, more rarely, on the thyroid. “In women, we can observe a disappearance of periods, or even early menopause (before the age of 40), leading to bone fragility (osteoporosis) with a risk of fracture, particularly in the vertebrae, wrist and back. hip“, lists the general practitioner.
A decrease in desire in men
Iron accumulation can cause a significant drop in the secretion of testosterone, the main male hormone. This will result in reduced sexual desire, atrophy of the testicles and difficulty achieving an erection.
The 3 A rule should alert you: according to the doctor, you should consult when a person presents the following three problems simultaneously: Asthenia + Athralgia (joint pain) + increased ALT, a triad very suggestive of hemochromatosis and which should be practiced Exams.