Doctor explains why rare diseases can go undiagnosed for years

Associate Professor Maria Solovyova explained that rare diseases are often masked as common ones: symptoms develop gradually, the clinical picture is unclear, and examination options are limited. At the same time, a patient without a final diagnosis should not be left without help.

Otabek YusupovFirst published on tafs uz 29 October 2026 at 12:072 min read

The key facts

Rare diseases are hard to recognize because their symptoms resemble those of common illnesses
Without a diagnosis, a doctor can relieve symptoms, order further examinations, or convene a medical board
Russia's Ministry of Health added primary biliary cholangitis to the list of rare diseases

Why a diagnosis can take years

A rare disease can go unrecognized for years because its symptoms resemble those of more common illnesses. This was explained by Maria Solovyova, Associate Professor at the Department of Clinical Psychology of Pirogov University, Candidate of Medical Sciences, in an interview with RuNews24.ru, retold by Life.ru. According to her, diagnosis is also complicated by the gradual development of symptoms, an unclear clinical picture, and the limitations of available examinations.

What complicates the search

The search for the cause of an ailment becomes more complicated if common conditions are added to a rare pathology. In addition, the disease itself may be insufficiently studied. At the same time, the absence of a final diagnosis, according to the specialist, does not mean the patient is left without help: the doctor can prescribe remedies to relieve symptoms, refer the patient for further examination, or convene a medical board.

Recommendations for patients

Solovyova urged patients not to interrupt contact with medical professionals and to follow recommendations even when the search for the cause of the illness drags on. She advised relying on facts rather than assumptions, and talking through one's worries in order to reduce anxiety, fear, and irritation. Activities that bring positive impressions, she said, help sustain emotional strength: such a mindset supports patients during examinations and cooperation with doctors.

An example from the Health Ministry's practice

Earlier, the Russian Ministry of Health added primary biliary cholangitis to the list of rare diseases. In this autoimmune disease, the immune system damages the bile ducts inside the liver. The disease can progress for a long time without pronounced manifestations; among the possible symptoms are fatigue, weakness, and skin itching — that is, signs that can easily be mistaken for symptoms of other conditions.