{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:36:32Z","timestamp":1756384592938,"version":"3.37.3"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Homozygous familial hypercholesterolaemia (FH) is an autosomal-dominant inherited disease presenting with highly elevated low-density lipoprotein cholesterol (LDL-C) levels. Untreated, the patient can develop atherosclerosis and cardiovascular disease already in adolescence. Treatment with statins and ezetimibe is usually not sufficient and LDL apheresis is often required. Lomitapide, an inhibitor of the microsomal triglyceride transfer protein, reduces LDL-C and triglyceride levels and can be used alone or in combination with other therapies in homozygous FH. However, experience with this agent is still limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>We present a young female who was diagnosed with homozygous FH at 6\u2009years of age. She shows a complete lack of normal LDL receptor activity and no cholesterol-lowering effect from statins. The patient was treated with LDL apheresis from 7\u2009years of age. When LDL apheresis treatment extended to twice a week, she began to experience adverse effects, including catheter-related complications, infections, and hospital admissions. When lomitapide treatment was initiated, the frequency of apheresis reduced, the LDL-C levels improved and she has not had any further hospital admissions since. Initially, she suffered from gastrointestinal disturbances. However, after 3\u2009years of treatment with lomitapide 20\u2009mg\/day, the patient has not experienced any adverse effects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>In this female with homozygous FH adding lomitapide treatment to LDL apheresis has contributed to improved LDL-C levels, a reduction in LDL apheresis sessions and enhanced quality of life. No adverse effects have been reported. These findings suggest that lomitapide can be a drug of choice in patients with homozygous FH.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaa020","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T09:29:33Z","timestamp":1581672573000},"page":"1-6","source":"Crossref","is-referenced-by-count":4,"title":["Lomitapide treatment in a female with homozygous familial hypercholesterolaemia: a case report"],"prefix":"10.1093","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4597-9369","authenticated-orcid":false,"given":"Karin","family":"Littmann","sequence":"first","affiliation":[{"name":"Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Clinical Chemistry, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Szummer","sequence":"first","affiliation":[{"name":"Department of Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8474-1759","authenticated-orcid":false,"given":"Hannes","family":"Hagstr\u00f6m","sequence":"first","affiliation":[{"name":"Division of Hepatology, Department of Upper GI, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9475-6025","authenticated-orcid":false,"given":"Karoly","family":"Dolapcsiev","sequence":"first","affiliation":[{"name":"Department of Pathology, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1230-6205","authenticated-orcid":false,"given":"Jonas","family":"Brinck","sequence":"first","affiliation":[{"name":"Metabolism Unit, Department of Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden"},{"name":"Patient Area Endocrinology and Nephrology, Inflammation and Infection Theme, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mats","family":"Eriksson","sequence":"first","affiliation":[{"name":"Metabolism Unit, Department of Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden"},{"name":"Patient Area Endocrinology and Nephrology, Inflammation and Infection Theme, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,2,13]]},"reference":[{"key":"2020022804010936600_ytaa020-B1","doi-asserted-by":"crossref","first-page":"2146","DOI":"10.1093\/eurheartj\/ehu274","article-title":"Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. 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