{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T04:04:46Z","timestamp":1775707486153,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,18]]},"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:p>Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with signs of hypertensive encephalopathy. Physical examination showed arcus cornealis, planar xanthomas and tuberous xanthomas. After appropriate investigations, a direct aetiology of the hypertension could not be elucidated; however, our patient\u2019s hypertension resolved with the reduction in serum lipid levels. \u03b2-hydroxy \u03b2-methylglutaryl coenzyme A reductase and cholesterol absorption inhibitors were administered as first-line treatment. A significant proportion of patients with HoFH continue to have elevated LDL-C levels, thereby requiring second-line agents, such as proprotein convertase subtilisin\/kexin type inhibitors (evolocumab), microsomal triglyceride transfer protein inhibitors (lomitapide) and angiopoietin-like protein inhibitors (evinacumab). This case report aimed to raise awareness among paediatricians to consider HoFH as a possible aetiology in a child presenting with hypertension and suggestive physical findings.<\/jats:p>","DOI":"10.1136\/bcr-2022-250265","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T11:05:12Z","timestamp":1667214312000},"page":"e250265","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy"],"prefix":"10.1136","volume":"15","author":[{"given":"Shadab B","family":"Maldar","sequence":"first","affiliation":[{"name":"Department of Pediatric Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8625-2342","authenticated-orcid":false,"given":"Christopher Jude","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,10,31]]},"reference":[{"key":"2025082702582072000_15.10.e250265.1","doi-asserted-by":"crossref","first-page":"665","DOI":"10.5551\/jat.RV17050","article-title":"Homozygous familial hypercholesterolemia","volume":"28","author":"Nohara","year":"2021","journal-title":"J Atheroscler Thromb"},{"key":"2025082702582072000_15.10.e250265.2","doi-asserted-by":"crossref","first-page":"e49","DOI":"10.1016\/j.amjms.2020.10.032","article-title":"Cutaneous manifestations in homozygous familial hypercholesterolemia","volume":"361","author":"Poonia","year":"2021","journal-title":"Am J Med Sci"},{"key":"2025082702582072000_15.10.e250265.3","first-page":"12","article-title":"Xanthomas: a marker for hyperlipidemias","volume":"95","author":"Lugo-Somolinos","year":"2003","journal-title":"Bol Asoc Med P R"},{"key":"2025082702582072000_15.10.e250265.4","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2021-245418","article-title":"Extensive Papulonodular xanthoma: a diagnostic clue to homozygous familial hyperlipidaemia","volume":"15","author":"Panda","year":"2022","journal-title":"BMJ Case Rep"},{"key":"2025082702582072000_15.10.e250265.5","unstructured":"Karanchi H , Muppidi V , Wyne K . 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