Background: Familial chylomicronemia syndrome (FCS) is characterized by severe fasting hypertriglyceridemia, abdominal pain, and recurrent acute pancreatitis. Available triglyceride-lowering drugs are insufficient to avoid pancreatitis. Therefore, there is a significant unmet medical need for effective triglyceride-lowering drugs for patients with FCS. Case report: We report the second case of a patient with FCS and recurrent pancreatitis treated with lomitapide. Lomitapide treatment resulted in a reduction of fasting TG levels from 2897 mg/dL (32.71 mmol/L) to an average of 954 mg/dL (10.77 mmol/L) on the 30 mg lomitapide equating to a 67% reduction from baseline. After 26 months of lomitapide treatment, histological activity score for hepatic fibrosis was stable although liver biopsy showed a marked increase of liver steatosis and mild perivenular and perisinusoidal fibrosis. Conclusions: Lomitapide is effective in reducing triglycerides in FCS and preventing the recurrence of acute pancreatitis. A longer follow-up is necessary to evaluate long-term risk of progression toward severe stages of liver fibrosis. A prospective clinical trial may identify which subgroup of FCS patients would benefit from lomitapide treatment in the absence of significant liver adverse effects.

Cefalu AB, Giammanco A, Noto D, Spina R, Cabibi D, Barbagallo CM, et al. (2020). Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome. ENDOCRINE [10.1007/s12020-020-02506-y].

Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome

Cefalu AB
Conceptualization
;
Noto D
Writing – Review & Editing
;
Spina R
Membro del Collaboration Group
;
Cabibi D
Membro del Collaboration Group
;
Barbagallo CM
Membro del Collaboration Group
;
Averna M.
Funding Acquisition
2020

Abstract

Background: Familial chylomicronemia syndrome (FCS) is characterized by severe fasting hypertriglyceridemia, abdominal pain, and recurrent acute pancreatitis. Available triglyceride-lowering drugs are insufficient to avoid pancreatitis. Therefore, there is a significant unmet medical need for effective triglyceride-lowering drugs for patients with FCS. Case report: We report the second case of a patient with FCS and recurrent pancreatitis treated with lomitapide. Lomitapide treatment resulted in a reduction of fasting TG levels from 2897 mg/dL (32.71 mmol/L) to an average of 954 mg/dL (10.77 mmol/L) on the 30 mg lomitapide equating to a 67% reduction from baseline. After 26 months of lomitapide treatment, histological activity score for hepatic fibrosis was stable although liver biopsy showed a marked increase of liver steatosis and mild perivenular and perisinusoidal fibrosis. Conclusions: Lomitapide is effective in reducing triglycerides in FCS and preventing the recurrence of acute pancreatitis. A longer follow-up is necessary to evaluate long-term risk of progression toward severe stages of liver fibrosis. A prospective clinical trial may identify which subgroup of FCS patients would benefit from lomitapide treatment in the absence of significant liver adverse effects.
Cefalu AB, Giammanco A, Noto D, Spina R, Cabibi D, Barbagallo CM, et al. (2020). Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome. ENDOCRINE [10.1007/s12020-020-02506-y].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/458041
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