Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up

J Pediatr Hematol Oncol 2021 Jul 23. doi: 10.1097/MPH.0000000000002249.

PMID: 34310471

Amal El-Beshlawy, Khaled Abdel-Azim, Amina Abdel-Salam

Highlights: Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an overall survival of 73.3%.

Abstract

Objective: From 1998 to 2017, researchers looked at the general disease features, the impact of enzyme replacement treatment (ERT), and overall survival (OS) of 156 Egyptian patients with Gaucher disease (GD) who were on hormone replacement therapy.

Results: The mean age at diagnosis was 32.46±12.68 months. At the time of diagnosis, 50% of the patients had anemia, 30.7 percent had thrombocytopenia, 58.7% had severe splenomegaly, 11.9% had severe hepatomegaly, and 24.3% had skeletal abnormalities. Type 3 was the most common form of GD (54.5%). Twenty-two type 3 patients had no neurological symptoms at the time of diagnosis, and 12 developed varying central nervous system symptoms over time. Limited eye movements, oculomotor apraxia, and squint were the most prevalent neurological characteristics. Homozygous L444P was the most prevalent genotype among the 60 patients whose genotypes were retrieved (n=35/60, 58.3%). Blood indices, organ volumes, and growth indicators all improved significantly after treatment with ERT (imiglucerase) (P<0.05). Over the course of 20 years, ten (11.7%) type 3 patients did not acquire any neurological manifestations while on ERT. The mortality was 16%, and the 20-year OS was %73,3. We conclude that type 3 GD is the most common phenotype in Egypt, while homozygous L444P is the most common GBA genotype of GD.

Conclusion: Early diagnosis and treatment with ERT over a 20-year period resulted in considerable improvements in disease symptoms, with an OS of 73.3%.

Keywords: Gaucher Disease, enzyme replacement treatment, follow-up