Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease

Autor: Francesca Carubbi, Maria Domenica Cappellini, Annalisa Dalla Salda, Vincenzo Spina, Irene Motta, Elena Cassinerio, Serena Bursi, Salvatore Donatiello, Fabio Nascimbeni
Rok vydání: 2018
Předmět:
Liver Cirrhosis
Male
Cirrhosis
Endocrinology
Diabetes and Metabolism
medicine.medical_treatment
Biochemistry
Gastroenterology
Liver disease
0302 clinical medicine
Endocrinology
Glucocerebrosidase deficiency
Metabolic Syndrome
Enzyme replacement therapy
Liver stiffness
Metabolic syndrome
Vibration controlled transient elastography
Molecular Biology
Genetics
Middle Aged
Diabetes and Metabolism
Liver
030220 oncology & carcinogenesis
Hepatocellular carcinoma
Splenectomy
Elasticity Imaging Techniques
Portal hypertension
Female
030211 gastroenterology & hepatology
Adult
medicine.medical_specialty
Carcinoma
Hepatocellular
Genotype
Peptidyl-Dipeptidase A
Vibration
03 medical and health sciences
Internal medicine
Hypertension
Portal
medicine
Humans
Enzyme Replacement Therapy
Aged
Gaucher Disease
business.industry
Cholesterol
HDL
medicine.disease
business
Transient elastography
Zdroj: Molecular Genetics and Metabolism. 125:64-72
ISSN: 1096-7192
Popis: Background & aims Long-term liver-related complications of Gaucher disease (GD) include cirrhosis, portal hypertension and hepatocellular carcinoma. Although liver fibrosis is the main determinant of adverse liver-related clinical outcomes, it has rarely been evaluated in previously published cohorts of GD patients. We aimed at: assessing the prevalence of significant liver fibrosis in a cohort of patients with type 1 GD; identifying its predictors among GD-related variables, enzyme replacement therapy (ERT) and metabolic features. Methods 37 adult type 1 GD patients from two Italian academic referral centers were prospectively submitted to vibration controlled transient elastography (Fibroscan®); significant fibrosis was defined as liver stiffness ≥7 kPa. Results Median liver stiffness was 4.6 [3–15.1] kPa and 7 patients (19%) had significant fibrosis. Significant fibrosis was associated with splenectomy (p = .046) and with scores (DS3: p = .002; SSI: p = .026) and biomarkers (ACE: p = .016; HDL cholesterol: p = .004) of GD severity. Length of ERT was significantly lower in GD patients with significant fibrosis. In the subgroup of 29 patients who were on stable ERT for at least 24 months, further to splenectomy, GD severity and non-N370S GBA1 genotypes, also diastolic blood pressure, BMI and the number of metabolic syndrome (MetS) components emerged as factors significantly associated with significant fibrosis. Conclusions Significant fibrosis is present in a remarkable proportion of adult type 1 GD patients. Splenectomy, GD severity and GBA1 genotypes are major GD-related predictors of liver fibrosis. Length of ERT is inversely correlated with liver disease in GD patients, suggesting a beneficial effect of ERT on liver fibrosis. However, GD patients on stable ERT should be monitored for metabolic complications, since MetS features may enhance liver disease progression despite optimal GD control.
Databáze: OpenAIRE
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