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Case report : treatment of Familial Chylomicronaemia Syndrome with lomitapide
Lorde, Nathan Ochoa-Ferraro, Antonio Wanninayake, Subadra Robertson, Louise Dawson, Charlotte
Lorde, Nathan
Ochoa-Ferraro, Antonio
Wanninayake, Subadra
Robertson, Louise
Dawson, Charlotte
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Affiliation
University Hospitals Birmingham NHS Foundation Trust
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Publication date
2025-07-10
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Abstract
We present the case of a male patient with familial chylomicronaemia syndrome (FCS) and thrombocytopenia treated with lomitapide on compassionate grounds.
This patient had suffered recurrent episodes of hypertriglyceridaemic pancreatitis since aged 7 years. Genetic testing aged 33 revealed a homozygous exon 3 and 4 GPIHBP1 deletion variant (OMIM: 612757) confirming the diagnosis of FCS. By this age he had developed thrombocytopenia (platelet count 49 to 90 *109/L), secondary to hypersplenism. Additionally, he had common bile duct stenosis causing recurrent obstructive jaundice managed with an indwelling stent, pancreatogenic diabetes mellitus and exocrine pancreatic insufficiency.
Good adherence to a low-fat diet of less than 20g daily with rosuvastatin and fenofibrate did not adequately control the triglycerides and he continued to have recurrent attacks of acute pancreatitis.
Volanesorsen, the APOC3 anti-sense oligonucleotide licensed for FCS, was contraindicated by his low platelet count. Instead, compassionate use of oral lomitapide, the microsomal transfer protein (MTP) inhibitor licensed for homozygous familial hypercholesterolaemia, was initiated on an expanded access programme funded by the manufacturer. Aged 37, he started lomitapide 5 mg once daily and gradually up-titrated to 20 mg once daily over 18 months. He remained on a low-fat diet overseen by a specialist dietician.
On 15 mg of lomitapide treatment, his serum triglyceride concentration was 5.8 mmol/L compared with a mean of 26.1 mmol/L prior to starting lomitapide (range 10.5 to 35 mmol/L prior to starting). Importantly, since commencing lomitapide, he has had no episodes of acute pancreatitis requiring hospital admission compared with multiple episodes every year prior to starting. He has stopped fenofibrate but remains on rosuvastatin.
Conclusion:
Lomitapide for treatment of FCS is available from the manufacturer via an expanded access programme. It may be considered an effective second- or third-line agent when volanesorsen is contra-indicated and is well-tolerated by patients already on a low-fat diet.
Citation
Lorde, N., Ochoa-Ferraro, A., Wanninayake, S., Robertson, L. and Dawson, C. (2025) 'Case report : treatment of Familial Chylomicronaemia Syndrome with lomitapide'. Heart UK Conference. University of Warwick, Coventry; 7-10 July.
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Conference Output