Organization of pharmacological support of patients with rare diseases in moscow as exemplified by pulmonary arterial hypertension

Abstract

Orphan diseases are life-threatening, chronic, progressive and leading to a reduction in life expectancy or disability conditions. Patients with rare diseases are one of the vulnerable population groups, which is caused by several factors, such as insufficient awareness of practitioners about such diseases, complicated and lengthy diagnosis, and imperfection of legal environment in the area of pharmacological support of orphan diseases, when only 24 orphan diseases (List-24) are determined, which are treated at the expense of the RF subjects.Imperfection of federal orphan diseases legislation is shown on the example of providing patients with PAH-specific therapy: only idiopathic form of pulmonary hypertension is included in the federal List-24, there is no well-established mechanism of pharmacological support for patients with chronic thromboembolic pulmonary hypertension (CTEPH) that is not included in the List-24. The article describes the successful experience in providing patients with orphan diseases, regardless of the inclusion of nosology in List-24 in Moscow, through the creation and implementation of the transparent medical and pharmacological support regulation for patients with orthopaedic diseases, which settled the timely process of provision of patients with the necessary therapy. As a result, patients with CTEPH also have access to existing pathogenetic treatment that can prolong life and improve the quality of life of such patients.