Fabry disease

Main article: Orphan (rare) diseases

Diagnosis of the disease

2024: It takes an average of 21 years to make a diagnosis

Without an established diagnosis and on time treatment, patients with Fabry disease die at the age of 40-50 years. The highest mortality is observed among patients with a renal type of the disease, that is, in those whose disease manifested itself in kidney damage. And it is patients in hemodialysis centers who are more often diagnosed.

One of the leading Russian specialists in Fabry's disease, Sergey Moiseev, a member of the correspondent of the Russian Academy of Sciences, professor, director of the Clinic named after E.M. Tareeva Sechenov University in June 2024 shared data on the results of screening patients and their relatives in dialysis departments: out of 331 examined, the disease was detected in 165, that is, almost 50%. At the same time, he stressed that early diagnosis is critical for successful treatment. Now it takes an average of 21 years to establish a correct diagnosis.

The key method for detecting Fabry disease is family screening: according to Ekaterina Zakharova, MD, head of the laboratory of hereditary metabolic diseases, head of the laboratory of selective screening of the Moscow State Research Center named after Academician N.P.Bochkov, for each patient with Fabry disease there can be up to five additional cases of the disease in one family.

'Late diagnosis is not a unique Russian problem, especially when it comes to orphan diseases. However, as soon as therapy becomes available, specialized specialists begin to be more attentive to various symptoms, see the disease more systematically and may suspect a rare diagnosis, which means that they send the patient for screening, "the expert said.

The diagnostic method involves determining the activity of the enzyme alpha-galactosidase or measuring the concentration of lysosomal globotriaosylsphingosine (lise-Gb3) in dry blood spots. Testing allows you to accurately establish the presence of the disease and prescribe the necessary therapy in a timely manner.

Treatment of Fabry disease

Enzyme replacement therapy (PFT) is used to treat Fabry disease in 2024, which has already proven itself well: 90% of patients did not have adverse clinical outcomes against the background of long-term PFT.