Fabry disease

It is a recessive disease linked to the X chromosome, which means that it is necessary that there is an alteration of the two copies of the gene for the enzyme galactosidase A (one on each X chromosome), for the disease to manifest itself. Males, who only have one copy of the X chromosome, will always have it if the gene is altered, while females will be carriers if there is an altered copy, and they will rarely suffer from the disease.

How is it produced?

Fabry disease, described in 1960, affects one in 117,000 people. It occurs due to the absence of an enzyme, galactosidase A, which is responsible for degrading and metabolizing globotriaosylceramide. In the absence of this enzyme, the fatty substance does not degenerate and accumulates in the tissues, mainly in the blood vessels of the skin, kidneys, heart and brain.

Symptoms of Fabry disease

The symptoms of Fabry disease begin manifesting in childhood in the form of acroparesthesias, which are crises of stabbing pain in the hands and feet that are usually triggered by physical activity, fever, exhaustion, stress or changes in environmental temperature. Likewise, these patients usually present a generalized decrease in sweating.

In addition to this pain, lesions called angiokeratomas appear on the skin. These are raised red, purple or bluish lesions that occur predominantly on the abdomen, thighs and genitals, in the so-called “swimsuit area”. They tend to follow a symmetrical pattern, do not cause pain or itching and do not tend to stick together. There are some cases, although few, in which skin involvement does not occur.

An ocular involvement is characteristic, which is the whorled cornea, in which there are golden or grayish deposits in the iris that are arranged radially, especially below the pupil. This injury does not affect visual ability.

After 30 or 40 years of age, other affectations begin to be seen, such as at the cardiac level, which can cause hypertrophy of the left ventricle, alterations in electrical conduction or affectation of the valves, which can lead to a or one .

At the brain level, the involvement of the encephalic blood vessels can cause transient ischemic attacks (TIA) without repercussions or ischemic cerebrovascular accidents () that can lead to irrecoverable neurological deficits. Likewise, cerebral hemorrhagic episodes can also occur.

With regard to the kidneys, the involvement of the smaller caliber renal vessels affects the renal purifying function, which causes one to be gradually established that in the long run can cause the patient to end up on dialysis or being a candidate for a kidney transplant.

Fabry disease diagnosis

The diagnosis is based initially on the description that the patient makes of the crisis of pain in the hands and feet, as well as the dermatological lesions previously described.

An ophthalmic examination is performed with a slit lamp to appreciate the whorled cornea. It should be noted that this lesion can also be presented by patients receiving amiodarone. A blood test is performed to evaluate kidney function, as well as a determined 24-hour urine proteinuria. Galactosidase A levels can be determined in the blood and will appear greatly decreased, if not nonexistent.

An (ECG) or echocardiogram is required to assess cardiac involvement in patients with this disease.

Treatment

The treatment of Fabry disease will be symptomatic, with analgesia for pain crises and treatment of the different affectations (cardiac, neurological, kidney) if necessary.

Patients with chronic kidney failure may be candidates for a kidney transplant. The disease does not usually recur in the transplanted organ.

There are two drugs on the market that are galactosidase A that can be administered intravenously every two weeks. This would make up for the lack of production of the enzyme and therefore the accumulation of the substance in the tissues. The problem with this treatment is its high cost, which can be up to 45,000 euros per year.

Precautionary measures

As it is a hereditary disease, there are no preventive measures. Male children of men with Fabry disease will be free of the disease, unless the mother is also a carrier of the affected gene.

In case of presenting symptoms compatible with this disease, it is important to put yourself in the hands of a specialist as soon as possible so that they can adequately monitor the patient.

• The first symptoms appear in childhood in the form of throbbing pain in the hands and feet, which is usually triggered by physical activities, fever, exhaustion, stress or changes in environmental temperature.
• It is a hereditary disease: the male children of men with Fabry disease will be free of the disease, unless the mother is also a carrier of the affected gene.
• Treatment will be symptomatic, with analgesia for pain crises and treatment of the different affectations (cardiac, neurological, kidney) if necessary.