Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome
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ORIGINAL ARTICLE
Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome Angelo B. Cefalù 1 Antonina Giammanco1 Davide Noto1 Rossella Spina1 Daniela Cabibi1 Carlo M. Barbagallo1 Maurizio Averna1 ●
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Received: 17 June 2020 / Accepted: 23 September 2020 © Springer Science+Business Media, LLC, part of Springer Nature 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. Keywords Familial chylomicronaemia syndrome Acute pancreatitis Lomitapide Fatty liver ●
Introduction Familial chylomicronemia syndrome (FCS, OMIM 238600) is a rare genetic disorder, inherited as a monogenic recessive trait [1]. Cumulative FCS prevalence is estimated at 1:1,000,000 [2]. The main biochemical feature of FCS is the accumulation of chylomicrons (CM) in plasma with triglyceride (TG) levels > 10 mmol/L (>885 mg/dL) [1].
These authors contributed equally: Angelo B Cefalù, Antonina Giammanco, Davide Noto * Angelo B. Cefalù [email protected] * Maurizio Averna [email protected] 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
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Clinical features of FCS also include xanthomatosis (planar, eruptive, and tuberous), lipemia retinalis, hepatosplenomegaly, and recurrent episodes of abdominal pain and/or acute pancreatitis (AP) [2]. AP is the most frequent and lifethreatening complication of FCS, resulting in some cases in chronic malabsorption and diabetes mellitus [3, 4]. Genetic causes include homozygous, compound heterozygous, or double heterozygous loss-of-function mutations in candidate genes involved in intravascular hydrolysis of TG rich lipoproteins (very
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