Colombia
Contributions
Type: Publication Only
Background
Gaucher disease (GD), categorized by its low frequency as rare disease is an autosomal recessive lysosomal storage disorder, characterized by deficiency of the enzyme acid beta-glucosidase. The prevalence is 1:40,000/100,000 live births in the general population and 1:500 live births among Ashkenazi Jewish (Grabowsky G.,2004). Data from the International Gaucher Registry (GR), 2010 have included 5828 patients, reporting that 15.6% (911) of the patients are from Latin America.
GD has great variability in the severity and organ involvement, being usually of nonspecific clinical characteristics, leading to late diagnosis, with irreversible complications. Splenomegaly and thrombocytopenia are the two most common manifestations, revealed in 2008 on the GR, which reported 86% cases with moderate to severe splenomegaly and 60% thrombocytopenia at the time of diagnosis, and these are the reasons why patients are referred in the first instance to hematology. Considering the diagnosis of GD after other diagnostic hypotheses have been ruled out. The consensus of international experts in the management of patients with GD, established a diagnostic algorithm that is specially intended for specialists (Mistry et al 2010).
The diagnostic algorithms of straightforward implementation, to support medical specialties in Latin America for early diagnostic suspicion of GD is required.
Aims
To identify new cases of GD in a selected population referred to Hematology, Pediatric Hematology, Pediatrics, Genetics and Internal Medicine services with a history of splenomegaly and/or thrombocytopenia, which are parameters of the diagnostic algorithm for the general population, based on the recommendations of the article by Mistry, et al (Figure 1).
Methods
Multicenter, descriptive study, in active recruitment process with non-probabilistic sampling by convenience. Currently, the study has 16 specialized medical centers in Hematology, Pediatrics and Internal Medicine in Colombia. Eligible patients are those with documented thrombocytopenia <150,000 mm3 according to Mistry algorithm, or splenomegaly defined as palpable spleen ≥1 cm below the costal rim or diagnosed by ultrasound, Nuclear Magnetic Resonance and Computed Tomography. Patients with prior diagnosis of GD, splenomegaly due to portal hypertension, documented hematologic malignancy or hemolytic anemia/ thalassemia were excluded. All patients were compiled information from their medical history and the determination of the activity of the enzyme beta-glucosidase, was performed. The study has an expected duration of 12 months of recruitment for each center.
Results
Since February 2014 (many of the patients were admitted in November and December), 27 patients have been recruited, of which analysis of enzymatic results report was obtained in 12 patients (7 women and 5 men) with median age of 9 years in a range of 1.33 to 79 years. All patients of non-Ashkenazi origin reported 50% of splenomegaly, among other symptoms and signs (Figure 2). It was recorded from the total sample analyzed, 91.7% of thrombocytopenia, and an enzymatic report of a patient with evidence of a positive correlation with chitotriosidase levels (Figure 3).
Summary
The results of this study are in early stages of development, and its analysis is based on a limited sample. Nevertheless there is evidence that the algorithm offers support to specialists in our environment to detect new cases of GD. We will expect to recruit more patients and sites during year 2015 to provide more power to the results of this clinical study.
Acknowledgements: We thank Genzyme Colombia for financial support and CAIMED Colombia for coordination of the study.
Keyword(s): Gaucher disease, Spleen, Thrombocytopenia
Session topic: Publication Only
Type: Publication Only
Background
Gaucher disease (GD), categorized by its low frequency as rare disease is an autosomal recessive lysosomal storage disorder, characterized by deficiency of the enzyme acid beta-glucosidase. The prevalence is 1:40,000/100,000 live births in the general population and 1:500 live births among Ashkenazi Jewish (Grabowsky G.,2004). Data from the International Gaucher Registry (GR), 2010 have included 5828 patients, reporting that 15.6% (911) of the patients are from Latin America.
GD has great variability in the severity and organ involvement, being usually of nonspecific clinical characteristics, leading to late diagnosis, with irreversible complications. Splenomegaly and thrombocytopenia are the two most common manifestations, revealed in 2008 on the GR, which reported 86% cases with moderate to severe splenomegaly and 60% thrombocytopenia at the time of diagnosis, and these are the reasons why patients are referred in the first instance to hematology. Considering the diagnosis of GD after other diagnostic hypotheses have been ruled out. The consensus of international experts in the management of patients with GD, established a diagnostic algorithm that is specially intended for specialists (Mistry et al 2010).
The diagnostic algorithms of straightforward implementation, to support medical specialties in Latin America for early diagnostic suspicion of GD is required.
Aims
To identify new cases of GD in a selected population referred to Hematology, Pediatric Hematology, Pediatrics, Genetics and Internal Medicine services with a history of splenomegaly and/or thrombocytopenia, which are parameters of the diagnostic algorithm for the general population, based on the recommendations of the article by Mistry, et al (Figure 1).
Methods
Multicenter, descriptive study, in active recruitment process with non-probabilistic sampling by convenience. Currently, the study has 16 specialized medical centers in Hematology, Pediatrics and Internal Medicine in Colombia. Eligible patients are those with documented thrombocytopenia <150,000 mm3 according to Mistry algorithm, or splenomegaly defined as palpable spleen ≥1 cm below the costal rim or diagnosed by ultrasound, Nuclear Magnetic Resonance and Computed Tomography. Patients with prior diagnosis of GD, splenomegaly due to portal hypertension, documented hematologic malignancy or hemolytic anemia/ thalassemia were excluded. All patients were compiled information from their medical history and the determination of the activity of the enzyme beta-glucosidase, was performed. The study has an expected duration of 12 months of recruitment for each center.
Results
Since February 2014 (many of the patients were admitted in November and December), 27 patients have been recruited, of which analysis of enzymatic results report was obtained in 12 patients (7 women and 5 men) with median age of 9 years in a range of 1.33 to 79 years. All patients of non-Ashkenazi origin reported 50% of splenomegaly, among other symptoms and signs (Figure 2). It was recorded from the total sample analyzed, 91.7% of thrombocytopenia, and an enzymatic report of a patient with evidence of a positive correlation with chitotriosidase levels (Figure 3).
Summary
The results of this study are in early stages of development, and its analysis is based on a limited sample. Nevertheless there is evidence that the algorithm offers support to specialists in our environment to detect new cases of GD. We will expect to recruit more patients and sites during year 2015 to provide more power to the results of this clinical study.
Acknowledgements: We thank Genzyme Colombia for financial support and CAIMED Colombia for coordination of the study.
Keyword(s): Gaucher disease, Spleen, Thrombocytopenia
Session topic: Publication Only