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].

“The disease already leads to serious complications by the age of 40. In 40% of the 220 patients with a verified diagnosis by this age, disabling manifestations of the disease were observed — chronic kidney disease, stroke, heart damage. 9% of patients with Fabry disease died, the median age at death was only 44 years”
said Sergei Moiseev, doctor of sciences in medicine, full professor corresponding member of the Russian Academy of Sciences, director of the Clinic named after E.M. Tareev, Head of the Department of Internal, Occupational Diseases and Rheumatology of the Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russia.

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.

“Family screening allows us to identify patients with Fabry disease at an early stage and those with a mild form of the disease. Statistics show that for every patient with a confirmed diagnosis, there are 5 more relatives suffering from this rare disease,”
noted Ekaterina Zakharova, doctor of sciences in medicine, Head of the Department of Molecular Mechanisms of Hereditary Metabolic Disorders at the Federal State Budgetary Scientific Institution “Research Center for Medical Genetics.”

Among the groups at increased risk of developing Fabry disease are patients with cardiac pathologies, early strokes, and renal failure.

“Possible red flags that would prompt cardiologists to suspect Fabry disease and refer the patient for screening include left ventricular hypertrophy and cardiomyopathy. “As well as renal dysfunction, previous strokes, angiokeratomas, vortex keratopathy and neuropathic pain in the extremities,”
added Maria Kharlap, PhD, leading researcher at the Department of Cardiac Rhythm and Conduction Disorders, National Medical Research Center for Therapy and Preventive Medicine.

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.

“Not all patients with an established diagnosis receive therapy if they have no clinical manifestations, and they are not given the necessary examinations despite the fact that the clinical guidelines and standards have a separate section on the management of a dispensary group for Fabry disease,”
emphasized Nato Vashakmadze, doctor of sciences in medicine, Professor of the Department of Faculty Pediatrics of the Institute of Maternal and Child Health of the Federal State Budgetary Educational Institution of Higher Education “N.I. Pirogov Russian National Research Medical University”, Head of the Department of Orphan Diseases and Prevention of Disabling Diseases of the Institute of Pediatrics and Children’s Health of the Scientific and Clinical Center No. 2 of the Federal State Budgetary Scientific Institution “Russian Scientific Center of Surgery named after acad. B.V. Petrovsky”.

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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