Department of Hematology and Chemotherapy of Orphan Diseases

The department operates as federal reference center for the diagnosis and treatment of Gaucher disease.  Since 2007, patients in the Russian Federation with Gaucher disease have been receiving enzyme replacement therapy (ERT) free of charge under the state program "14 High-Cost Nosologies.” Due to the rarity and exceptional clinical variability of Gaucher disease, determining the severity of the disease and evaluating the effectiveness of treatment is complex, requiring high-tech methods of examination and expert evaluation. The timely assignment of ERT makes it possible to stop the progression of Gaucher's disease and prevent irreversible damage to vital organs. In patients with established lesions of the osteoarticular system, complex treatment is necessary, including, in addition to ERT, correction of the function of the affected organs and surgical treatment of orthopedic defects. The NMRC for Hematology has accumulated unique experience in the treatment of patients with severe complications of Gaucher's disease, which has shown that it is possible to achieve complete rehabilitation of patients who have been bedridden for years. The amazing results of combined treatment (ERT, therapeutic management, surgical orthopedic support) are based on a multidisciplinary approach to the examination and treatment of patients with Gaucher disease, high professionalism and close cooperation with medical specialists of various profiles (orthopedic surgeons, radiologists, neurologists, cardiologists) .

The Department of Hematology and Chemotherapy of Orphan Diseases is the only department in the Russian Federation that specializes in the therapeutic management of patients with extrahepatic portal hypertension that developed as a result of portal system thrombosis against the background of hereditary or acquired thrombophilia. More than 150 patients with this pathology have been examined in our clinic. Close cooperation with surgeons of the NMRC for Hematology and surgeons of the Russian Scientific Center of Surgery named after B.V. Petrovsky make it possible to achieve the best results in the treatment of patients with this complex pathology, which requires comprehensive knowledge in the field of hematology, coagulology, hepatology, surgery, and molecular genetics.

From 1986 to the present, we have been a center for the diagnosis and treatment of histiocytosis in adults, including Langerhans cell histiocytosis and other non-malignant forms of histiocytosis (disseminated xanthogranuloma, Erdheim-Chester disease). During this period of time, more than 110 patients with Langerhans cell histiocytosis (LCH) have undergone examination and treatment in the clinic. Given the exceptional rarity of this disease, as well as the fact that the etiology and pathogenesis of LCH remain unclear, we work closely with specialists from other countries, participate in the global Register of patients with LCH and annual meetings of the International Histiocytic Society, which allows us to fully use the achievements of the world scientific community in our practice.

In the "golden fund" of our clinic there are rare specialists who have invaluable experience in the diagnosis and treatment of hereditary and acquired hemolytic anemia, as well as immune thrombocytopenia, refractory to standard therapies. Thanks to extensive knowledge in the field of therapy and hematology, out-of-the-box thinking and original ideas, our employees manage to achieve success in treatment where other specialists feel that there is a “hopeless end.”

The specialists of our clinic maintain numerous international contacts with colleagues from other countries, which allows us to exchange knowledge and experience in the management of rare and exceptionally rare diseases. We participate in international clinical trials of new drugs, as we are confident that this is a unique opportunity for our patients to receive a new highly effective treatment and for our clinic specialists to acquire modern knowledge regarding the mechanisms of disease development and new ways of influencing these mechanisms.

The employees of the department are members of international communities and expert groups

DEPARTMENT EMPLOYEES:

Elena P. Sysoeva — hematologist of the highest category, leading researcher, Candidate of Medical Sciences
Nina V. Tsvetaeva — hematologist of the highest category, senior researcher, Candidate of Medical Sciences
Olga F. Nikulina — hematologist of the highest category, Candidate of Medical Sciences
Rodion V. Ponomarev — head of the Sector for the Study of Non-Tumor Diseases of the Blood System, hematologist, Candidate of Medical Sciences
Vitaliy D. Latyshev — head of the Hematology Day Hospital for Patients with Hereditary Metabolic Diseases, hematologist
Rolanda B. Chavynchak — hematologist
Olga M. Averbukh — hematologist
Maria N. Finyakina — hematologist

Rolanda B. Chavynchak — hematologist

Elena P. Sysoeva — leading researcher, Candidate of Medical Sciences, doctor of the highest category

International Conference "Modern Achievements in the field of rare diseases: Gaucher disease in focus" (RARD-2017)

International Conference "Modern Achievements in the field of rare diseases: Gaucher disease in focus" (RARD-2017)

Conference "Polysystem Orphan Diseases in Adults as an Interdisciplinary Problem,” 2018

Conference "Polysystem Orphan Diseases in Adults as an Interdisciplinary Problem,” 2022

Conference "Polysystem Orphan Diseases in Adults as an Interdisciplinary Problem,” 2022

Conference "Polysystem Orphan Diseases in Adults as an Interdisciplinary Problem,” 2022