Fabry’s disease it is linked to the progressive accumulation within the lysosomes of a series of compounds called sphingoglycolipids. It arises from a genetic defect that causes a deficiency or total absence of a particular enzyme, alpha galactosidase a.
Fabry disease, what is it
Over time this situation leads to the accumulation of waste in the lysosomes of different types of cells in the human body, particularly those of the innermost wall of blood vessels. As for the transmission mechanisms, it is an X-linked disorder.
Fabry disease affects certain organs more intensely such as heart, kidney and brain, but it affects the whole organism. It assumes different characteristics based on age and there is a varying intensity of the damage created by the genetic deficit and therefore also the manifestations can be various. Therefore, since childhood you must pay attention to some alarm bells and talk to the pediatrician to have an early diagnosis.
Fabry disease, symptoms
A classic sign is pain from iron, that is, those who suffer from this pathology, very often say they have the sensation of having an iron resting on the skin, almost always on the hands and feet. These painful forms are technically called acroparesthesia.
In some cases they can manifest themselves as real pain crisis, as a result of stress, climatic changes or after an effort. Children suffering from this condition may have difficulty performing normal physical activities. However, care must be taken not to confuse this disease with a possible phenomenon of rheumatic origin.
Another sign is a lack of sweat, because the involvement of the sweat glands in Fabry’s disease causes children and adolescents not to sweat or sweat very little. In these cases, any physical effort involves an increase in body temperature. The skin becomes dry and it is difficult to endure both cold and heat. There may be red-purple skin lesions and with the shape of opaque macules that often form in groups around the navel and up to the knees, but can also appear in other parts of the body. And they are called angiokeratomas. Finally, there may be more general symptoms affecting the abdomen such as diarrhea, post-meal swelling, ringing in the ears.
Fabry disease, diagnosis and treatment
Early diagnosis is essential for setting up therapy. The disease then tends to evolve, even in adults. Therefore, attention must be paid to the heart, cardiovascular system, kidneys and brain.
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