Symptoms

The symptoms of hemochromatosis are caused by increased iron deposition in various organs, resulting in cell damage. Among other things, there are deposits in: At the beginning of the disease, the affected persons usually do not notice any symptoms or changes. Only after several years do symptoms appear for the first time.

Typical are unspecific initial symptoms like: The index and middle finger in the metacarpophalangeal joints are particularly affected by the joint complaints. But larger joints such as the knee joint are also frequently affected. Even under therapy, the joint complaints often hardly improve at all, which can lead to a strong reduction in quality of life.The fact that there is increased iron deposition in the liver, among other things, leads to an increase in connective tissue in the liver, which is known in technical terms as liver fibrosis.

The liver enzymes increase and the liver becomes enlarged. If the liver then undergoes scarring, this is known as liver cirrhosis. In the further stage, cirrhosis of the liver can, in extreme cases, develop into a small cell liver carcinoma.

Due to the connective tissue remodelling of the liver, its function is limited. In addition, other typical symptoms may occur, but these do not necessarily apply to every patient. These include increased skin pigmentation in sun-exposed skin areas.

In the further course of the disease, the skin becomes bronze colored. This is caused by increased melanin production (=skin pigment), since melanin is formed from iron, among other things. Symptoms of a sugar disease, such as increased urination and a feeling of thirst, can also occur.

The fact that the pancreas is damaged by iron deposition means that in the advanced stages of the disease, diabetes mellitus (sugar disease) actually develops. This can lead to increased hair loss and premature gray coloration of the hair. In addition, impotence can occur and in women, menstrual bleeding can change or even stop altogether.

Deposits in the pituitary gland often lead to a testosterone deficiency in men, resulting in a reduced libido (lust), and in women to an early onset of the menopause. Furthermore, iron deposits in the heart muscle can lead to cardiac insufficiency with resulting shortness of breath and cardiac arrhythmia. In addition, osteoporosis can develop.

Under certain circumstances, carcinomas, such as liver cancer or pancreatic cancer, may also develop as a result of the toxic cell damage caused by the iron deposits in the organs.

Liver
Pancreas
Pituitary Gland
Heart and
Joints
In men, the initial symptoms usually manifest themselves at an age between 30 and 50.
In women, on the other hand, the first symptoms occur after the menopause, as excess iron can be excreted naturally during menstruation before menopause and there may be an increased iron requirement due to pregnancy and breastfeeding.
Tiredness
Depressive disgruntlement
Upper abdominal pain and
Joint complaints

Typically, patients with hemochromatosis have a brownish-bronze pigmentation (discoloration) of the skin.

This darker skin color is mainly found on skin areas that are exposed to sunlight: In addition, nipples, armpits, palms and the genital region are also affected by the dark pigmentation. 75% of patients with hemochromatosis show the pigmentation in the armpits, in addition, underarm hair is missing. All other darker skin areas are also hairless in hemochromatosis.

The hyperpigmentation is due to an overproduction of the colorant melanin, which frequently occurs in hemochromatosis.

Extended side of the arms and hands,
Neck,
Face,
Lower leg.

Symptoms in the eyes are not (yet) known to occur in hemochromatosis. There are only individual case reports of hemochromatosis and cataract.

Hemochromatosis should not be confused with Wilson’s disease, a copper storage disease in which copper is deposited in a ring at the edge of the iris, which is called Kayser-Fleischer corneal ring. In about 50% of hemochromatosis patients, the disease manifests itself as a so-called arthropathy. Artrhopathy means nothing else than joint disease.

The arthropathy in hemochromatosis is painful and occurs preferentially at the base joints of the index and middle finger. The middle and wrist joints are also frequently affected. Patients with hemochromatosis are also known to have a premature occurrence of hip and knee joint arthritis. Unfortunately, therapy with phlebotomies can only prevent the occurrence of joint diseases caused by hemochromatosis at an early stage; existing joint damage cannot be reversed by treatment. Would you like to know how you can recognize arthrosis?