Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
The characteristics of Gaucher disease (GD) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy in type 1 GD (GD1) were investigated by retrospective analysis of International Collaborative Gaucher Group (ICGG) Registry data. The study involved 1016 GD1 patients with an intact spleen for whom date of diagnosis, therapy initiation, and platelet counts were known, and who received continuous imiglucerase therapy for 4 to 5 years. These patients were stratified by last platelet count: ≥ 120 × 10(9) /l (n = 772); ≥ 100 to <120 × 10(9) /l (n = 94); ≥ 80 to <100 × 10(9) /l (n = 80); and <80 × 10(9) /l (n = 70; 20 with <60 × 10(9) /l) and characterized by initial and cumulative average imiglucerase dose, body mass index, platelet count, anaemia, hepatomegaly, splenomegaly, and skeletal assessments at baseline and after 4-5 years of therapy. Statistically significant associations were found between persistent thrombocytopenia and baseline platelet count (<80 × 10(9) /l), splenomegaly, and anaemia (all P < 0·0001). After 4-5 years, statistically significant associations were found with splenomegaly (P < 0·0001), anaemia (P < 0·0001), white blood cell count (P = 0·049), hepatomegaly (P = 0·004) and bone pain (P = 0·035). Exponential platelet decay in relation to splenomegaly suggests that platelets increase only when spleen volume decreases substantially.
Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. c.e.hollak@amc.nl
Carla E M
CE
Hollak
Nadia
N
Belmatoug
J Alexander
JA
Cole
Stephan
S
Vom Dahl
Patrick B
PB
Deegan
Jack
J
Goldblatt
Barry
B
Rosenbloom
Laura
L
van Dussen
Anna
A
Tylki-Szymańska
Neal J
NJ
Weinreb
Ari
A
Zimran
Maria Domenica
MD
Cappellini
D000328:Adult; D000368:Aged; D000740:Anemia / Q000209:etiology; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D011994:Recombinant Proteins / Q000627:therapeutic use; D012042:Registries; D012189:Retrospective Studies; D013163:Splenomegaly / Q000097:blood / Q000209:etiology; D013921:Thrombocytopenia / Q000097:blood / Q000209:etiology*; D055815:Young Adult
D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase