ABSTRACT
BACKGROUND: Gaucher Disease (GD) is a rare autosomal recessive inherited disease caused by the deficiency of glucocerebrosidase and characterized by a broad spectrum of clinical manifestations, including hepatosplenomegaly, bone infiltration, and cytopenia. Moreover, it is even involved in the central nervous system. GD is classified into three phenotypes on the ground of neurologic involvement: type 1 (GD1), the commonly adult-onset, non-neuropathic variant; type 2 (GD2), the acute neuropathic form; and type 3 (GD3), the severe chronic neuro-visceral form. Recently, several studies have shown a promising outcome of ambroxol chaperone therapy for the treatment of GD, but its therapeutic role in GD1-associated liver cirrhosis and portal hypertension was not verified. CASE PRESENTATION: A 36-year-old male patient was admitted for esophageal varices lasting for one year with a 34-year history of liver and spleen enlargement. The patient was diagnosed with GD1 with cirrhosis and portal hypertension based on the identification of Gaucher cells and advanced fibrosis in the liver biopsy tissue and two known pathogenic mutations on the glucocerebrosidase (GBA) gene. The patient received 660 mg/d of ambroxol for up to two years. At his six-month follow- up, the patient exhibited a remarkable increase in GBA activity (+35.5%) and decrease in liver stiffness (-19.5%) and portal vein diameter (-41.2%) as examined by ultrasound elastography and computer tomography, respectively. At two-year follow-up, the liver stiffness was further reduced (-55.5%) in comparison with untreated patients. CONCLUSION: This case report suggests that long-term treatment with high dose ambroxol may play a role in the reduction of hepatic fibrosis in GD1.
Subject(s)
Ambroxol , Gaucher Disease , Hypertension, Portal , Ambroxol/therapeutic use , Gaucher Disease/complications , Gaucher Disease/drug therapy , Gaucher Disease/genetics , Glucosylceramidase/genetics , Glucosylceramidase/therapeutic use , Humans , Hypertension, Portal/drug therapy , Hypertension, Portal/etiology , Liver Cirrhosis/complications , Liver Cirrhosis/diagnostic imaging , Liver Cirrhosis/drug therapy , MaleABSTRACT
BACKGROUND: Radiofrequency catheter ablation is an established procedure with a high success rate for treating Wolff-Parkinson-White (WPW) syndrome. Rare complications post-ablation may nonetheless occur particularly associated with coronary sinus. Identifying and avoiding these complications remains a challenge. CASE PRESENTATION: A 66-year-old woman with WPW syndrome was admitted to the hospital due to frequent attacks of paroxysmal tachycardia. During electrophysiological study, an accessory pathway was thought to connect the posterior wall of the left ventricle. The patient underwent Radiofrequency (RF) catheter ablation. The procedure was time-consuming because of combined left atrial and coronary sinus ablation. The total amount of radiofrequency application energy in the coronary sinus was 6800 J. After the operation, widespread concave ST-segment elevation, significantly increased value of serum troponin I and mild pericardial effusion were identified, but the patient did not show any symptoms. Therefore, the patient was suspected to have myocardial injury and pericarditis caused by ablation-related injury. The patient was uneventfully discharged five days after the procedure with a significantly decreased value of troponin I. The reexamined electrocardiogram was normal after three weeks. CONCLUSIONS: To the best of our knowledge, this is the first study to report on myocardial injury and pericarditis after combined left atrial and coronary sinus ablation in WPW syndrome. Our findings underscore the need for detailed mapping and careful ablation with low energy, as well as the merits of identifying myocardial infarction after coronary sinus ablation.
