Features of the diagnosis of Gaucher disease in children in the Russian Federation

Abstract

<jats:p><jats:bold>Relevance.</jats:bold> Diagnostic algorithms are an effective tool for the early detection and proper monitoring of patients with a rare pathology.</jats:p><jats:p><jats:bold>The purpose of the study</jats:bold> was to study the epidemiological, medical history, clinical and laboratory features of Gaucher disease (GD) in children in the Russian Federation (RF) to improve the algorithm for its diagnosis in a pediatric cohort of patients.</jats:p><jats:p><jats:bold>Materials and methods.</jats:bold> A retrospective study of data on children with GD included in the pediatric registry of National Health Medical Research Center for Children of the Ministry of Health of Russia was conducted. The data recording period is from 2006 to 2016.</jats:p><jats:p><jats:bold>Results.</jats:bold> The database contains 115 children with GD. The prevalence of the disease was 0.32 per 100 thousand children, with predominance in the Ural and North Caucasian federal districts. Only in 25 % of patients the diagnosis is confirmed within 6 months of the initial treatment. The family nature of the symptoms is established in 22 % of cases. Clinical polymorphism of GD leads to an erroneous interpretation of the diagnosis at primary reversibility in 85 % of cases; unjustified diagnostic and therapeutic measures, including surgical ones, in 70 % and 50 % of cases, respectively, thus leading to a delay in establishing the correct diagnosis up to 3.5 years and prescribing adequate treatment up to 4 years from the date of the examination. Key parameters for diagnosing GD include: damage to the parenchymal organs in the form of splenomegaly in 100 % and hepatomegaly in 94.8 % of patients; a change in hematological parameters in the form of anemia in 86.1 % and thrombocytopenia in 91.3 %; a change in biomarkers in the form of an increase in chitotriosidase activities in 94.0 % and aspartate aminotransferase in 51.0 %; ferritin concentration in 70.6 %, against a background of a decrease in iron content in 60.5 % and lipid metabolism (cholesterol in 54.0 % and high density lipoproteids in 85.0 %); elongation in the coagulogram of activated partial thromboplastin time in 66.2 % and prothrombotic time in 51.6 %; pathology of the skeletal system in the form of chronic bone pain and bone crises in 43 % and 18 % of patients, respectively; limb deformity of the type of “Erlenmeyer flasks” on the radiograph in 55.6 %; involvement of the central nervous system in patients with type II and type III hypertension in the form of oculomotor apraxia in 100 % of cases. An improved algorithm for diagnosing GD in children is proposed.</jats:p><jats:p><jats:bold>Conclusion.</jats:bold> Optimization of the algorithm for diagnosing GD in pediatrics will improve the provision of medical care to children with this orphan pathology in the RF.</jats:p>