Krasnoyarsk geneticist spoke about “red flags” that help recognize rare diseases

Doctor of Medical Sciences, Head of the Department of Medical Genetics and Clinical Neurophysiology of Krasnoyarsk State Medical University Diana Dmitrenko explained what signs doctors and patients should pay attention to in order not to miss an orphan pathology.

These are diseases that occur no more often than 10 people per 100 thousand population. About 80% of them are hereditary, and symptoms may not appear in childhood, but already in adulthood. In total, more than 7 thousand such diseases are known, and many of them are disguised as common ailments.

When diagnosing, doctors use the mnemonic rule GENES code created by the international community. Each letter in it indicates a sign that should alert a specialist.

• G – congenital anomalies, especially multiple ones.
• E – unusually severe reaction to common infections or early onset of age-related diseases.
• N—developmental delay in children or loss of skills, early neurological deterioration in adults.
• E – extreme or unusual pathologies such as multiple forms of cancer at a young age.
• S – unexpected deviations in tests in an apparently healthy person.

Besides this code, there are other red flags. Specific changes on MRI and EEG, intrauterine seizures in the fetus, generalized or polymorphic seizures that do not respond to treatment – all this requires a genetic search. Also alarming should be an enlarged liver and spleen, pancreatitis and diarrhea for no apparent reason, heart attacks at a young age, congenital cataracts, retinitis pigmentosa and characteristic skin lesions.

As Diana Dmitrenko emphasizes, early diagnosis of rare diseases gives a chance for timely treatment and a quality life. Knowing the “red flags” allows you to refer the patient to a geneticist in a timely manner and not waste precious time.

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