This study analyzes the general disease characteristics, impact of enzyme replacement therapy (ERT), and overall survival (OS) of 156 Egyptian patients with Gaucher disease (GD) enrolled on hormone replacement from 1998 to 2017. The mean age at diagnosis was 32.46 ± 12.68 months. Anemia was noted at diagnosis in 50%, thrombocytopenia in 30.7%, severe splenomegaly in 58.7%, severe hepatomegaly in 11.9%, and skeletal findings were detected in 24.3% of the patients. The most prevalent GD type was type 3 (54.5%). Twenty-two of type 3 patients had no neurological manifestations at diagnosis, and 12 developed variable central nervous system manifestations during follow-up. The most common neurological features were limited eye movements, oculomotor apraxia, and squint. Of the 60 patients for whom genotypes were obtained, homozygous L444P was the most common (n = 35/60, 58.3%). Treatment with ERT (imiglucerase) revealed significant improvements in blood indices, organ volumes, and growth parameters (P < 0.05). Ten (11.7%) type 3 patients did not develop any neurological manifestations under ERT over 20 years. Mortality was 16%, and the 20-year OS was 73.3%. We conclude that in Egypt, type 3 is the most prevalent phenotype of GD, and homozygous L444P is the predominant GBA genotype of GD. Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an OS of 73.3%.
Background Gaucher disease (GD) has been the subject of genotype/phenotype studies as well as therapeutic innovation. A cohort of ethnically homogeneous Egyptian patients suffering from GD type 3 (GD3) is described here, with the effects of enzyme replacement therapy (ERT) highlighted. Methods We studied the long-term outcome after 20 years of ERT in 85 patients with GD3 registered at the Pediatric Hematology Clinic of Cairo University since 1998. We obtained organ volumes, growth parameters, and neurological assessment at baseline and during ERT. Results Of the total sample, 77.6% of patients were diagnosed before the age of 2 years. Our patients were highly consanguineous, and 51% had a family history of GD. The most prevalent genotype was homozygous p.Leu483Pro (75.7%), followed by homozygous p.Asp448His (11%). Hemato-visceral aspects of disease included anemia (75.6%), moderate to severe thrombocytopenia (21.7%), severe splenomegaly (49.2%), and severe hepatomegaly (10.8%). One patient had liver cirrhosis with hepatopulmonary syndrome. Oculomotor apraxia, squint, and bulbar symptoms were reported in 48.6%, 30.6%, and 29.4% of patients, respectively. Imiglucerase (Cerezyme) was administered to all patients for reversal of hemato-visceral and growth parameters. The overall survival rate was 71% at 20 years; 20 patients died of pulmonary and neurological diseases. Conclusion This is the largest single-center study of GD3 patients with predominant homozygous p.Leu483Pro genotype. The patients had a very early onset of disease and severe disease parameters. The renunciation of hemato-visceral disease was achieved effectively by ERT with 71% OS, and one third of patients developed complications.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.