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Gaucher disease – recommendations concerning diagnosis, treatment and monitoring
Affiliations- Oddział Internistyczny o profilu gastroenterologicznym Szpitala Miejskiego w Tychach Sp. z o.o., Kierownik jednostki: lek. Daniela Rubisz-Warmuz, Tychy, Polska
- Zakład Genetyki Medycznej Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków, Polska, Kierownik jednostki: dr hab. n. med. Mirosław Bik-Multanowski
- Zespół Opieki Zdrowotnej, Kierownik jednostki: dr n. med. Ryszard Ściborski, Oława, Polska
- Klinika Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego, Pomorski Uniwersytet Medyczny, Kierownik jednostki: prof. dr hab. n. med. Mieczysław Walczak, Szczecin, Polska
- Oddział Chorób Wewnętrznych Miedziowego Centrum Zdrowia S.A. w Lubinie, Kierownik jednostki: lek. Zbigniew Szpich, Lubin, Polska
- Proper Medical Writing, Warszawa, Polska
- Sanofi-Aventis sp. z o.o., Sanofi Genzyme, Warszawa, Polska
- Wydział Medyczny, Uniwersytet Rzeszowski, Rzeszów, Polska
- Hematology Center Karolinska, Karolinska University Hospital Huddinge, Sztokholm, Szwecja
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Abstract
The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase activity, a lysosomal enzyme that digests glucosylceramide. Glucosylceramide excessively accumulates in the monocyte-macrophage system (Gaucher cells), which in turn accumulate primarily in the bone marrow, spleen and liver. In the most severe forms of the disease, central nervous system is also involved. There are three clinical types of Gaucher disease, and the primary criteria for their differentiation is the involvement of the central nervous system, and the rate of symptom progression. The least severe and most common is type 1 GD, characterised mainly by hematological manifestations, such as thrombocytopenia and anemia, splenomegaly, hepatomegaly and skeletal involvement (bone pain, bone deformities, pathological fractures). Types 2 and 3 GD involve various central nervous system manifestations. Diagnosis of Gaucher disease is difficult, particularly in individuals from families without prior GD history. Gaucher disease is characterised by a heterogenic disease course and is rarely considered in differential diagnosis. This presents a major problem, as correct diagnosis and treatment implementation are often delayed by many years. This can lead to serious complications and even premature death of the patient. Currently, the primary therapeutic approach is an enzyme replacement therapy, involving an intravenous administration of recombinant glucocerebrosidase. Treatment of mild and moderate forms of the disease also includes an oral therapy which inhibits the production of glucocerebroside.
Abstract
The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase activity, a lysosomal enzyme that digests glucosylceramide. Glucosylceramide excessively accumulates in the monocyte-macrophage system (Gaucher cells), which in turn accumulate primarily in the bone marrow, spleen and liver. In the most severe forms of the disease, central nervous system is also involved. There are three clinical types of Gaucher disease, and the primary criteria for their differentiation is the involvement of the central nervous system, and the rate of symptom progression. The least severe and most common is type 1 GD, characterised mainly by hematological manifestations, such as thrombocytopenia and anemia, splenomegaly, hepatomegaly and skeletal involvement (bone pain, bone deformities, pathological fractures). Types 2 and 3 GD involve various central nervous system manifestations. Diagnosis of Gaucher disease is difficult, particularly in individuals from families without prior GD history. Gaucher disease is characterised by a heterogenic disease course and is rarely considered in differential diagnosis. This presents a major problem, as correct diagnosis and treatment implementation are often delayed by many years. This can lead to serious complications and even premature death of the patient. Currently, the primary therapeutic approach is an enzyme replacement therapy, involving an intravenous administration of recombinant glucocerebrosidase. Treatment of mild and moderate forms of the disease also includes an oral therapy which inhibits the production of glucocerebroside.
Keywords
Gaucher disease; Clinical symptoms; Children; Adults; Treatment; Monitoring
About this articleTitle
Gaucher disease – recommendations concerning diagnosis, treatment and monitoring
Journal
Issue
Pages
222-261
Published online
2017-10-01
Page views
186
Article views/downloads
2216
DOI
10.1016/j.achaem.2017.10.001
Bibliographic record
Acta Haematol Pol 2017;48(4):222-261.
Keywords
Gaucher disease
Clinical symptoms
Children
Adults
Treatment
Monitoring
Authors
Piotr Hasiński
Mirosław Bik-Multanowski
Magdalena Koba-Wszędobył
Mieczysław Walczak
Marek Bubnowski
Agnieszka Milewska-Kranc
Andrzej Smyk
Maciej Machaczka