World Fabry Disease Awareness Day. What is important to know about a rare diagnosis

Burning pain in the hands and feet since childhood, almost complete absence of sweating, intolerance to heat, "vascular spots" on the skin, and then a stroke at a young age or chronic kidney failure. At the same time, patients have been treating individual symptoms from different specialists for years without receiving a general diagnosis. This is often what the path of a person with Fabry's disease looks like — a rare hereditary disease that is detected on average about 20 years after the first manifestations. On World Fabry Disease Awareness Day, doctors remind us that the key to early diagnosis is to recognize the combination of symptoms.

What is this disease?

Fabry's disease is a rare hereditary disease associated with a deficiency of the enzyme alpha-galactosidase A. Due to its deficiency, sphingolipids (fatty substances) accumulate in cells, which gradually damage organs and tissues. Over time, the nervous system, heart, kidneys, skin, eyes, and gastrointestinal tract suffer. The disease occurs in about 1 in 40-120 thousand newborns. It can occur in both men and women, but in men it usually begins earlier and is more severe. In women, the symptoms may be less pronounced, but the disease is still progressing and requires medical supervision.

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Why is the diagnosis being made so late?

The main problem is the "fragmentation" of symptoms. One patient may simultaneously experience neurological pain, skin manifestations, gastrointestinal disorders, as well as kidney or heart damage. Each of these symptoms individually may look like an independent disease, so patients are often seen by different specialists. As a result, the overall picture of the disease does not add up, and the correct diagnosis has not been established for years. The average time from the first symptoms to diagnosis is about 20 years. During this time, the disease can lead to irreversible organ damage.

What symptoms may indicate Fabry's disease?

Doctors identify a combination of signs that are especially important in the complex:

Burning, paroxysmal pain in the hands and feet (often since childhood)
• Reduced or no sweating
• Intolerance to heat, physical activity, overheating
• Small dark red skin rashes (angiokeratomas)
• Chronic gastrointestinal symptoms (diarrhea, bloating, nausea)
• Tinnitus or hearing loss for no apparent reason
• Corneal opacity (detected by an ophthalmologist)
• Protein in urine during tests
• Stroke or transient ischemic attack at a young age (under 50 years of age) without typical risk factors

The presence of several such symptoms is a reason to consult a doctor and discuss a genetic examination or analysis of enzyme activity.

"The time before diagnosis is the time of disease progression"

For Fabry's disease, there is enzyme replacement therapy (NRT), which slows down the accumulation of toxic substances in cells. The greatest effect of treatment is achieved with early initiation of therapy, before the development of severe organ damage.

Without treatment, the disease can lead to heart failure, strokes at a young age, kidney failure with the need for dialysis, as well as a reduction in life expectancy to 40-50 years.

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The disease is familial

• Fabry's disease is inherited genetically
• In most cases, it occurs not in one person, but in several generations of the family.
• Upon confirmation of the diagnosis, an examination is recommended for all relatives
• Several patients can be identified in the same family at once, both with pronounced symptoms and with early, almost imperceptible manifestations.
• Early family screening allows you to start treatment before complications develop