Successful treatment with lomitapide in a patient with homozygous familial hypercholesterolemia and severe fatty liver disease

Selected Abstract – Spring Meeting 2023

Alessia Cavicchioli
U.O.C. Medicina Interna ad Indirizzo Metabolico, Ospedale Civile di Baggiovara, AOU di Modena e Università degli Studi di Modena e Reggio Emilia, Italia
Simonetta Lugari
U.O.C. Medicina Interna ad Indirizzo Metabolico, Ospedale Civile di Baggiovara, AOU di Modena e Università degli Studi di Modena e Reggio Emilia, Italia
Michela D’Avino
Soc Endocrinologia Malattie Metaboliche Servizio Nutrizione Clinica, Arcispedale S. Maria Nuova, Reggio Emilia, Italia
Francesca Carubbi
U.O.C. Medicina Interna ad Indirizzo Metabolico, Ospedale Civile di Baggiovara, AOU di Modena e Università degli Studi di Modena e Reggio Emilia, Italia
Fabio Nascimbeni
U.O.C. Medicina Interna ad Indirizzo Metabolico, Ospedale Civile di Baggiovara, AOU di Modena e Università degli Studi di Modena e Reggio Emilia, Italia

Abstract

Introduction and Aims: Homozygous-familial hypercholesterolemia (Ho-FH) is a rare condition due to biallelic mutations in low-density lipoprotein-receptor (LDL-R) genes characterized by high level of LDL-cholesterol (LDL-c) and huge risk of premature atherosclerotic cardiovascular disease (ASCVD), determining low quality of life and life expectancy.
Lomitapide represents a therapeutic option for Ho-FH, but caution should be observed when used in fatty liver disease (FLD) and hypertransaminasemia since it is associated with onset/worsening of liver steatosis. We present a case of safe lomitapide therapy in an adult Ho-FH patient with pre-existing FLD.
Case presentation: A 39-year-old man with severe hypercholesterolemia since childhood (LDL-c 405 mg/dl) and premature coronary heart disease history, was referred to our Modena Lipid Clinic. He presented an overt metabolic syndrome, FLD with hypertransaminasemia and elastosonographic significant liver fibrosis. Lipid-lowering-therapy (LLT) included rosuvastatin 20 mg, ezetimibe and evolocumab 140 mg twice a month without reaching LDL-c goal. Genetic analysis revealed homozygous pathogenic LDL-R gene mutation. Evolocumab was increased up to 420 mg twice a month and LDL-apheresis was started with quality of life worsening. Therefore, lomitapide 5 mg daily and low-fat diet were started, obtaining weight loss and lipid profile improvement. However, liver enzymes elevation higher than 5-fold was observed, leading to lomitapide discontinuation and baseline liver enzymes values restoration. After one-month wash-out, lomitapide was gradually reintroduced up to 5 mg daily without significant hypertransaminasemia recurrence, leading to LDL-c target achievement and LDL-apheresis discontinuation. Adherence to low-fat diet and weight loss resulted in FLD and fibrosis improvement.
Conclusion: Ho-FH requires complex, combined treatment. Metabolic comorbidities co-existence makes Ho-FH management more difficult. Lomitapide can be safely used in Ho-FH patients with FLD and hypertransaminasemia, but strict follow-up of liver disease and a multidisciplinary approach are needed. Before lomitapide introduction, low-fat diet should be started advantageously and weight stabilization should be obtained.

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