{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:12:20Z","timestamp":1761765140107,"version":"3.41.0"},"reference-count":13,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2009,4,6]],"date-time":"2009-04-06T00:00:00Z","timestamp":1238976000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:sec id=\"S1047951109003989_abs1\" sec-type=\"general\">\n\t    <jats:title>Background<\/jats:title>\n\t    <jats:p>Familial hypercholesterolemia is a monogenic, autosomal dominant disorder caused by mutations in the LDL receptor gene. Familial homozygous hypercholesterolemia results when both the alleles have the defective mutation. It is characterized by cutaneous and tendinous xanthomas, premature corneal arcing, and is associated with an increased risk of coronary arterial disease. It is also seriously underdiagnosed, resulting in delayed treatment.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1047951109003989_abs2\" sec-type=\"methods\">\n\t    <jats:title>Methods<\/jats:title>\n\t    <jats:p>We present a cross-sectional study of 5 patients with familial homozygous hypercholesterolemia who presented to the department of cardiology at Sri Jayadeva Institute of Cardiology, Bangalore, India. All of them underwent coronary angiography as part of the investigation of their angina.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1047951109003989_abs3\" sec-type=\"results\">\n\t    <jats:title>Results<\/jats:title>\n\t    <jats:p>All 5 patients were in 2nd or 3rd decade of life, 4 being male, and 4 presenting with effort angina, the other having unstable angina. All had multiple tendinous xanthomas. The majority had significant high grade coronary arterial stenosis. Coronary arterial bypass grafting was necessary in 3, with the others undergoing percutaneous insertion of coronary arterial stents.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1047951109003989_abs4\" sec-type=\"conclusion\">\n\t    <jats:title>Conclusion<\/jats:title>\n\t    <jats:p>Familial homozygous hypercholesterolemia is a potentially dangerous risk factor that can result in premature coronary arterial disease in children and young adults. This can result in severe morbidity and premature death in young individuals. We also emphasise the need to screen first-degree relatives and extended family members, this playing an important role in early detection and treatment. Despite recent advances in treatment using lipid lowering agents, the disease remains a significant challenge.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/s1047951109003989","type":"journal-article","created":{"date-parts":[[2009,4,6]],"date-time":"2009-04-06T08:26:43Z","timestamp":1239006403000},"page":"257-263","source":"Crossref","is-referenced-by-count":4,"title":["The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young"],"prefix":"10.1017","volume":"19","author":[{"given":"Ravindranath K.","family":"Shankarappa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagaraja","family":"Moorthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seetharama P. S.","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramesh","family":"Dwarakaprasad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjunath C.","family":"Nanjappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2009,4,6]]},"reference":[{"key":"S1047951109003989_manual_ref-12","first-page":"II-526","article-title":"B-mode ultrasound measurements of carotid artery walls in children with molecular proven familial hypercholesterolemia and their unaffected siblings","volume":"104","author":"Wiegman","year":"2001","journal-title":"Circulation"},{"key":"S1047951109003989_manual_ref-5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)92193-5"},{"key":"S1047951109003989_manual_ref-6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198412273112603"},{"key":"S1047951109003989_manual_ref-11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb14847.x"},{"key":"S1047951109003989_manual_ref-1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(84)90298-4"},{"key":"S1047951109003989_manual_ref-13","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90822-7"},{"key":"S1047951109003989_manual_ref-9","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)93147-F"},{"key":"S1047951109003989_manual_ref-3","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.79.2.225"},{"key":"S1047951109003989_manual_ref-4","first-page":"672","volume-title":"The Metabolic Basis of Inherited Disease","author":"Goldstein","year":"1983"},{"key":"S1047951109003989_manual_ref-8","unstructured":"8. WHO. Human Genetic Program. Familial Hypercholesterolemia. Report of a WHO consultation. WHO\/HGN\/FH\/CONS\/98.7 Paris; October 1997."},{"key":"S1047951109003989_manual_ref-7","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-198309000-00004"},{"key":"S1047951109003989_manual_ref-10","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119131"},{"key":"S1047951109003989_manual_ref-2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.44.4.361"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951109003989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T09:03:40Z","timestamp":1750496620000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951109003989\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,6]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["S1047951109003989"],"URL":"https:\/\/doi.org\/10.1017\/s1047951109003989","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2009,4,6]]}}}