
Experts: Adding Fabry disease to the list of high-cost nosologies is necessary to reduce patient mortality

Centralization of procurement of drugs for the treatment of Fabry disease will reduce the level of premature mortality caused by late initiation of therapy. Leading experts discussed issues of improving approaches to the diagnosis and treatment of this disease during a round table at the XV All-Russian Congress of Patients.
Fabry disease is an inherited progressive orphan disease. This genetic disease is accompanied by a disruption in the production of the enzyme α-galactosidase, which is responsible for breaking down fats in cells, where they accumulate and trigger a cascade of disorders: the heart, blood vessels, kidneys, organs of vision, and nervous system suffer[1].
According to experts, the number of Russian patients diagnosed with Fabry disease is not more than 10-15% of the total number of patients with this disease[2]. The reasons for this include a lack of awareness among specialists and a variety of symptoms of the disease.
Late diagnosis leads to lack of timely treatment, early disability and premature death[1]. Timely diagnosis is possible through screening among risk groups and in patients’ families.
Among the groups at increased risk of developing Fabry disease are patients with cardiac pathologies, early strokes, and renal failure.
In children, it is especially difficult to suspect Fabry disease: angiokeratomas, keratopathy of the eyes and neuropathic pain are not always considered as a sign of pathology. But even a diagnosed disease does not always guarantee receiving full assistance.
Sergei Moiseyev expressed the opinion that the problems of providing medical care could be solved by centralizing the procurement of drugs, as well as revising the existing clinical and statistical groups, since the funding provided by them does not allow for providing patients with the necessary assistance, and recommended including these points in the resolution.
He was supported by Mikhail Krivorotenko, an expert at the National Non-Profit Organization “Social and Practical Center,” , which is implementing the “Fabry Disease Under Control” project to provide informational, psychological, and legal support to patients. According to him, even if therapy is prescribed, bureaucratic difficulties prevent it from being received, whereas the inclusion of Fabry disease in the list of high-cost nosologies will allow timely treatment regardless of where the patient lives.
In addition to centralizing procurement, the roundtable participants also recommended including in the resolution the need to create a corresponding register that would make information about patients and the medical care they receive transparent. Since a timely diagnosis and timely prescribed enzyme replacement therapy can improve the quality of life, reduce the likelihood of complications and increase life expectancy in Fabry disease.
1 Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP. Fabry disease in cardiology practice: Literature review and expert point of view. Arch Cardiovasc Dis. 2019 Apr;112(4):278-287. doi: 10.1016/j.acvd.2019.01.002. Epub 2019 Feb 28. PMID: 30826269.
2 In Russia, the actual number of patients with Fabry disease may be 10 times higher than official data. https://petrovax.ru/press_centre/news/2023/v-rossii-realnoe-chislo-pacientov-s-boleznyu-fabri-mozhet-byt-v-10-raz-bolshe-oficialnyh-dannyh/.
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