Medicina (Kaunas) 2011; 47 (7): 405-411

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Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment

Gražina Kleinotienė1, Anna Tylki-Szymanska2, Barbara Czartoryska3

1Center of Oncohematology, Vilnius University Children’s Hospital, Lithuania, 2Department of Metabolic Diseases, Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw, Poland, 3Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland

Key words: Gaucher’s disease; lysosomal storage disease; glucocerebrosidase; hepatosplenomegaly.

Summary. Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher’s disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinically, two forms of Gaucher’s disease are defined: nonneuronopathic form, so-called type 1, characterized by hepatosplenomegaly, thrombocytopenia, anemia, and osteopenia, and neuronopathic form, known as types 2 and 3, which are also characterized by hepatosplenomegaly, hematological and bone changes; however, involvement of the central nervous system dominates in the clinical picture.

Severe deficiency of beta-glucocerebrosidase activity allows confirming the diagnosis based on the clinical picture or the findings of bone marrow examination.

Treatment with human glucocerebrosidase was introduced in 1991. Clinically good results are achieved: not only accumulation of glucocerebroside is stopped, but also positive changes in the reticuloendothelial system and an improvement in development and hematological parameters of children are observed as well as the development of bone lesions is reduced. To date, Gaucher’s disease has been diagnosed in 8 patients in Lithuania: 3 persons have type 3 and 5 have type 1 disease. Enzyme replacement therapy was started in 2001, and currently 6 persons are being treated. In majority of patients, Gaucher’s disease was suspected after exclusion of other possible proliferative diseases. All patients within the first or second year of treatment achieved the therapeutic goals, namely: normalization of hematological parameters, reduction in liver and spleen volumes, and bone pain relief.

Correspondence to G. Kleinotienė, Center of Oncohematology, Vilnius University Children’s Hospital, Santariškių 2, 08661 Vilnius, Lithuania. E-mail:

Received 15 November 2010, accepted 27 July 2011