Fabry Disease

Fabry disease is a rare inherited disorder in which the body does not correctly process a certain fatty substance, which progressively accumulates in different organs such as the kidneys, the heart, the skin, and the nervous system.

Common symptoms: Pain or burning in the hands and feet, decreased sweating, small reddish skin lesions, digestive discomfort, and, over the years, kidney or heart involvement may be present.

When to see a doctor? An evaluation is advisable when there are unexplained symptoms that recur, especially if there is a family history of the disease.

Which specialist treats it? Because it affects several organs, it usually requires a combined approach: the internist coordinates the overall evaluation and the nephrologist monitors kidney function. Discussing the symptoms and family history with a professional helps guide the workup.