Hepatomegaly Syndrome in Patients with Type 1 Gaucher Disease in Ukraine

The is article is devoted to the manifestation of hepatomegaly syndrome in a rare metabolic disorder – type 1 Gaucher disease (GD). The objective: to evaluate clinical signs and potential diagnostic role of hepatomegaly syndrome in patients with type 1 GD in Ukraine. As well as to develop and propose the diagnostic algorithm for GD, taking into account the hepatomegaly syndrome as a key clinical sign. Materials and methods. A retrospective clinical study was conducted involving 82 patients with type 1 GD diagnosed in Ukraine over a 21-year period (2002–2023). The patients underwent complex clinical examination of the manifestations of the disease, which included a detailed medical history collection, physical examination, as well as instrumental and laboratory evaluation of liver and spleen. Ultrasound examination was used to assess the sizes and structure of liver, while functional markers were evaluated through serum transaminase and ferritin levels. Results. Clinical symptoms and diagnostic findings were analyzed in 82 patients with confirmed type 1 GD in Ukraine. Comprehensive examination revealed hepatomegaly in 47 patients (57.32%) at the time of diagnosis, often in combination with other clinical signs. According to the clinical observations in Ukraine, liver enlargement was not depended on the presence of splenomegaly or history of splenectomy. Isolated hepatomegaly as an initial disease manifestation is rare (7.3%), but in some cases it is the only symptom at the time of diagnosis. Subsequently, most of these patients progress to classical hepatosplenomegaly accompanied by hematological disorders. Ferritin level was found to correlate with the degree of hepatomegaly, showing statistically significant elevations in patients with liver enlargement exceeding 1.25 times (odds ratio (OR) 30.17; p = 0.002) and especially ad increase of more than 1.5 times (OR 89.28; p = 0.0041). Such elevated ferritin level was present in only 54–67% of patients with hepatomegaly, thus this marker cannot be considered a universal diagnostic indicator of liver damage in GD. Conclusions. Hepatomegaly is a common clinical manifestation of type I GD. It was identified in 91% of patients in Ukraine at the time of diagnosis confirmation. The severity of hepatomegaly did not depend on whether splenectomy had been performed. Isolated hepatomegaly was uncommon (7.3%) and, in some cases, it was the only clinical symptom. A significant correlation was found between ferritin level and the degree of hepatomegaly. Based on the findings, a diagnostic algorithm was proposed that may be useful for early disease identification.