{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:33:06Z","timestamp":1772253186625,"version":"3.50.1"},"reference-count":32,"publisher":"Sociedade Brasileira de Cardiologia","issue":"7","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Bras. Cardiol."],"abstract":"<jats:p>Resumo  Fundamento  A defici\u00eancia da lipase \u00e1cida lisoss\u00f4mica (D-LAL) \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva rara, caracterizada pelo ac\u00famulo maci\u00e7o de \u00e9steres de colesterol e triglicer\u00eddeos em v\u00e1rios \u00f3rg\u00e3os, levando \u00e0 hepatosplenomegalia, esteatose microvesicular, cirrose e morte prematura. O reconhecimento precoce \u00e9 crucial para a realiza\u00e7\u00e3o da terapia de reposi\u00e7\u00e3o enzim\u00e1tica em tempo h\u00e1bil.  Objetivos  Rastrear a D-LAL em indiv\u00edduos com dislipidemias e\/ou doen\u00e7a hep\u00e1tica em uma unidade cl\u00ednica de dislipidemias.  M\u00e9todos  Avaliamos retrospectivamente registros de 2018 adultos e crian\u00e7as utilizando um algoritmo de rastreamento que inclu\u00eda eleva\u00e7\u00e3o de ALT\/AST &gt;1,5x o limite superior da normalidade, LDL-C &gt;160 mg\/dL, HDL-C &lt;40 mg\/dL (homens) ou &lt;50 mg\/dL (mulheres) em adultos, e LDL-C &gt;130 mg\/dL, HDL-C &lt;45 mg\/dL em crian\u00e7as. Pacientes de alto risco para D-LAL foram selecionados para ensaio de atividade enzim\u00e1tica da LAL em amostras de sangue seco, utilizando o inibidor de LAL, Lalistat-2.  Resultados  Entre 2018 pacientes rastreados, 21 (0,92%) foram selecionados para avalia\u00e7\u00e3o da atividade de LAL, mas apenas oito apresentaram resultados normais no teste [atividade m\u00e9dia de LAL 0,077 \u00b1 0,03 nmol\/pun\u00e7\u00e3o\/h (valor de refer\u00eancia &gt;0,024 nmol\/pun\u00e7\u00e3o\/h)]. Uma crian\u00e7a cuja m\u00e3e n\u00e3o realizou o teste teve atividade de LAL indetect\u00e1vel em exame post-mortem. Posteriormente, a m\u00e3e e tr\u00eas meio-irm\u00e3os tiveram a confirma\u00e7\u00e3o de D-LAL. O sequenciamento gen\u00e9tico (NGS) do gene LIPA n\u00e3o identificou variantes patog\u00eanicas, o que n\u00e3o permite descartar altera\u00e7\u00f5es na regi\u00e3o n\u00e3o codificante do gene analisado.  Conclus\u00f5es  A identifica\u00e7\u00e3o da D-LAL continua sendo um desafio, e um algoritmo baseado em crit\u00e9rios cl\u00ednicos e laboratoriais pode auxiliar na sele\u00e7\u00e3o de pacientes para rastreamento da D-LAL. Dada a sua raridade e caracter\u00edsticas comuns a outras dislipidemias gen\u00e9ticas, a D-LAL \u00e9, principalmente, um diagn\u00f3stico de exclus\u00e3o, frequentemente considerado quando outras condi\u00e7\u00f5es tenham sido descartadas.<\/jats:p>","DOI":"10.36660\/abc.20240825","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T16:17:02Z","timestamp":1755533822000},"source":"Crossref","is-referenced-by-count":0,"title":["Triagem de Defici\u00eancia de Lipase \u00c1cida Lisoss\u00f4mica em uma Unidade Cl\u00ednica de Dislipidemias"],"prefix":"10.36660","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7338-1180","authenticated-orcid":false,"given":"Zenia","family":"Brasil","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Antonio H.","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil; Casa dos Raros,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2383-1793","authenticated-orcid":false,"given":"Marco Antonio","family":"Curiati","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra Obikawa","family":"Kyosen","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa Gon\u00e7alves","family":"Pereira","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8317-297X","authenticated-orcid":false,"given":"Waleria Toledo","family":"Fonzar","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Bosco","family":"Pesquero","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francy Reis da Silva","family":"Patr\u00edcio","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0178-2168","authenticated-orcid":false,"given":"Marcelo Hideki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce Umbelino","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil; Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vania","family":"D\u2019Almeida","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Martins","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5738-2623","authenticated-orcid":false,"given":"Maria Cristina","family":"Izar","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil; Casa dos Raros,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"22636","published-online":{"date-parts":[[2025]]},"reference":[{"issue":"1","key":"ref1","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/s10620-008-0310-2","article-title":"Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult","volume":"54","author":"Chatrath H","year":"2009","journal-title":"Dig Dis Sci"},{"issue":"4","key":"ref2","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1097\/MOL.0b013e328361f6c6","article-title":"Lysosomal Acid Lipase A and the Hypercholesterolaemic Phenotype","volume":"24","author":"Fouchier SW","year":"2013","journal-title":"Curr Opin Lipidol"},{"key":"ref3","series-title":"The Human Gene Mutation Database. 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