Angelo B Cefalù1, Antonina Giammanco2, Davide Noto2, Rossella Spina2, Daniela Cabibi2, Carlo M Barbagallo2, Maurizio Averna3. 1. Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica Di Eccellenza "G. D'Alessandro" (PROMISE), Università degli Studi di Palermo, Via del Vespro 129, 90127, Palermo, Italy. abaldassare.cefalu@unipa.it. 2. Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica Di Eccellenza "G. D'Alessandro" (PROMISE), Università degli Studi di Palermo, Via del Vespro 129, 90127, Palermo, Italy. 3. Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica Di Eccellenza "G. D'Alessandro" (PROMISE), Università degli Studi di Palermo, Via del Vespro 129, 90127, Palermo, Italy. maurizio.averna@unipa.it.
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.
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.