The doctor told about the symptoms of rare diseases

A rare orphan disease can be suspected if there is a complex of persistent symptoms that does not fit into the picture of any "common" disease. In addition, the symptoms often do not disappear with the appointment of "standard" therapy. Anastasia Goltsman, the chief physician of the Golden Care Center for Chronic Diseases (part of the Medscan Group of Companies), told Izvestia about this on July 4.

An additional factor "in favor" of rarity, according to the doctor, may be the familial nature of the disease, that is, the presence of atypical symptoms in several family members.

"Orphan diseases are diseases that occur in a small number of patients. There is no single international criterion by which a disease belongs to this group — in Russia, this category includes diseases detected less than in one patient out of 10,000," explained Goltsman.

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Orphan diseases include diseases of various natures: most of them are genetic, but there are also autoimmune and even infectious diseases. They differ in course, symptoms, and degree of influence on the patient's quality of life. Some diseases cause changes in appearance that are noticeable to the naked eye, while others do not change the appearance of the patient, but significantly reduce his quality of life.

According to the expert, orphan diseases have a variety of manifestations, and therefore there is simply no single symptom by which they could be easily recognized or at least suspected. On average, it takes about five years to make a diagnosis, during which the disease can progress with irreversible consequences.

A significant part of rare diseases are of a genetic nature, and therefore genetic testing is an important diagnostic tool. It can be completed after consultation with a geneticist. Many rare diseases affect several organs at once, and it is the complex lesion that indicates the pattern characteristic of the disease. Not all district doctors and even specialized specialists are able to see complex symptoms and refer the patient to a special geneticist for diagnosis.

"It is impossible to cure orphan diseases once and for all, but for some rare diseases, therapy has been developed, the constant intake of which allows the patient to live a normal life, despite the diagnosis. Currently, effective therapy that affects the course of the disease exists for about 5% of orphan diseases," the doctor added.

She clarified that even if there is no therapy to slow the progression of the disease, patients are offered symptomatic treatment aimed at eliminating discomfort and improving their quality of life, such as relieving pain, swelling, and breathing problems.

Earlier, on March 25, State Duma Deputy, President of the Dmitry Rogachev National Research Medical Center for Pediatric Hematology, Oncology and Immunology, Academician of the Russian Academy of Sciences Alexander Rumyantsev told the Izvestia News Center that technologies for the treatment and diagnosis of orphan (rare) diseases are rapidly developing in Russia.