[Column] The Hidden Pain Signals: Why You Should Not Overlook Fabry Disease

"A Rare Disease Often Mistaken for Growing Pains
Early Diagnosis Is Essential"

Have you ever experienced burning pain in your hands and feet as a child, only to dismiss it as growing pains? Or perhaps you struggled more than others in hot weather due to lack of sweating, but considered it just a matter of your physical constitution? If such symptoms have occurred repeatedly, it is important to consider the possibility of an underlying rare disease known as Fabry disease.

Fabry disease is a hereditary disorder caused by a deficiency of the enzyme alpha-galactosidase A, which is responsible for breaking down specific glycolipids. When this enzyme does not function properly, glycolipids accumulate in blood vessels and tissues, gradually damaging organs throughout the body, including the kidneys, heart, and nervous system. While the initial symptoms are relatively common, it is actually a “silent progressive disease” that may lead to fatal outcomes as time passes.

Minsik Kim, Chief of Cardiology at Incheon Himchan General Hospital.

The problem is that this disease often begins with symptoms that are all too familiar. Burning or tingling sensations in the hands and feet, fatigue, and abdominal pain are symptoms that anyone can experience at some point. Especially in growing children, such pain is easily mistaken for growing pains. Similarly, lack of sweating is often attributed to one’s constitution. By overlooking these early warning signs, the disease may progress quietly without being diagnosed.

As time goes by, the situation changes. It can start with proteinuria and declining kidney function, eventually progressing to kidney failure, or lead to serious complications such as cardiac hypertrophy, arrhythmias, heart failure, myocardial infarction, and stroke. In fact, there are many cases where patients are only diagnosed with Fabry disease after receiving treatment for kidney or heart disease. If significant organ damage has already occurred, treatment effectiveness is inevitably limited.

So, what is most important? The answer is clear: “early recognition and diagnosis.” If you experience unexplained pain in your hands and feet repeatedly, or if lack of sweating persists, you should not dismiss these as simple symptoms but instead consider seeking a professional examination. Extra caution is needed if there is a family history of kidney disease, heart disease, or stroke at a young age.

Since Fabry disease is a genetic disorder, a family-based approach is also important. Once a single patient is identified, screening tests for family members can help detect potential patients early. This plays a significant role in slowing disease progression and maintaining quality of life.

Fortunately, there are now treatment options available to slow the progression of the disease, such as enzyme replacement therapy that supplements the deficient enzyme. It is known that the earlier treatment begins, especially in childhood or adolescence, the better the prognosis. Ultimately, Fabry disease is not a disease that becomes dangerous only when discovered late, but rather a disease that can be adequately managed if recognized early.

While medicine continues to advance, the outcome for many diseases still depends on “when they are detected.” Fabry disease is no exception. Not missing the subtle signs our bodies send us is the first step to protecting our health.

Minsik Kim, Chief of Cardiology at Incheon Himchan General Hospital

This content was produced with the assistance of AI translation services.