Early Diagnosis and Timely Treatment: expert-defined priorities in the management of Fabry Disease presented at the “Orphan Diseases” сongress

Fabry disease remains among the most challenging inherited rare disorders to diagnose, despite the availability of modern methods for detection and treatment. According to expert estimates, approximately 350 patients in Russia have been diagnosed to date, whereas the true number of affected individuals may reach 5,800^[1]. Participants discussed contemporary approaches to the diagnosis and therapy of the Fabry disease in the symposium "From the Patient’s Voice to an Accurate Diagnosis: Assembling the Puzzle of Fabry Disease," held during the VIII All Russian Scientific and Practical Congress with International Participation "Orphan Diseases,"

According to experts, family screening remains one of the most effective diagnostic tools for Fabry disease, since the condition is hereditary and many relatives may be unaware of their diagnosis for a long time.

The discussion centered on real clinical cases that vividly illustrated why Fabry disease is referred to as a "diagnostic chameleon." Its symptoms can mimic rheumatological, cardiological, nephrological, neurological, and gastroenterological conditions. As a result, patients may be seen for years by physicians with different specialties while the disease continues to progress.

Nato Vashakmadze, Head of the Department of Orphan Diseases and Prevention of Disabling Conditions at the Institute of Pediatrics and Child Health Protection of the Research Centre named after acad. B. V. Petrovsky, emphasized that the initial symptoms of the disease often appear in childhood. Burning pain in the extremities, hypohidrosis or anhidrosis, intolerance to heat and physical activity, gastrointestinal disturbances, and cutaneous manifestations (angiokeratomas) — all of these symptoms are rarely linked to a rare disease by physicians. Meanwhile, it is precisely at this stage that irreversible lipid accumulation in cells begins, which later leads to severe cardiac and renal damage.

Experts emphasized that cardiovascular complications and chronic kidney disease are the factors that most often determine the prognosis of the disease. Therefore, it is crucial to make the diagnosis as early as possible—before irreversible changes develop. However, even in cases of severe kidney damage, timely treatment and transplantation can significantly prolong patients’ lives.

One of the priority tasks of the medical community remains raising orphan-disease awareness among physicians of various specialties. According to Alexey Moiseev, pulmonologist at the Clinic of Rheumatology, Nephrology, and Occupational Diseases named after acad. E.M. Tareev of Sechenov University, the disease is today most often detected by nephrologists and cardiologists, yet it is the multidisciplinary approach that makes it possible to suspect Fabry disease in time and initiate treatment. Early administration of enzyme replacement therapy helps to slow the progression of the disease, prevent severe complications, and preserve the function of the heart, kidneys, and other organs.

In Russia, several drugs for enzyme replacement therapy of Fabry disease are available to patients. One of them is the fully localized medication Fabagal^® (agalsidase beta). Enzyme replacement therapy based on agalsidase beta is the recognized "gold standard" for treating Fabry disease. Today, 90 Russian patients are receiving Fabagal^® as part of their Fabry disease therapy.

The experts also noted that modern diagnostic methods for Fabry disease are currently available in Russia, including biochemical and molecular genetic testing, as well as selective and family-based screening programs. Within the federal cardiology screening program implemented by the Research Centre for Medical Genetics named after Academician N.P. Bochkov in collaboration with Petrovax Pharm, approximately 300 patients from risk groups were examined. Cardiovascular pathology was identified in seven patients, including Fabry disease in a subset of cases. In addition, the professional community is considering the inclusion of lysosomal storage disorders, including Fabry disease, in the newborn screening program^[2].

In the experts’ view, expanding early-diagnosis programs and raising physicians’ awareness will make it possible to shorten the time to diagnosis, initiate therapy in a timely manner, and prevent the development of severe complications of the disease.