{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T05:38:51Z","timestamp":1776836331851,"version":"3.51.2"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Fatty liver is a leading cause of chronic liver disease in children, most often due to metabolic dysfunction-associated steatotic liver disease (MASLD). Fatty liver in lean or younger children may indicate underlying metabolic or genetic disorders, such as familial hypobetalipoproteinemia (FHBL). We examined the importance of considering familial hypobetalipoproteinemia (FHBL) in children presenting with fatty liver.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This case series includes seven patients with FHBL from three families, treated at two medical centers. Clinical, laboratory, imaging, and genetic data were collected from the medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Four patients were male. The mean age at diagnosis was 15.3\u202fyears (range: 4\u201338). All the index patients were children or adolescents presenting with fatty liver. Genetic evaluation revealed biallelic variants in the microsomal triglyceride transfer protein (\n                      <jats:italic>MTTP<\/jats:italic>\n                      ) gene in two siblings and heterozygous variants in the apolipoprotein B (\n                      <jats:italic>APOB<\/jats:italic>\n                      ) gene in five patients. The mean body mass index was 27\u202fkg\/m\n                      <jats:sup>2<\/jats:sup>\n                      , and two patients had a BMI above 30\u202fkg\/m\n                      <jats:sup>2<\/jats:sup>\n                      . The median follow-up (FU) time was 12\u202fmonths (interquartile range [IQR]: 1\u201357\u202fmonths). Liver enzymes were elevated in three patients (range: 50\u2013300\u202fIU\/L); median aspartate aminotransferase and alanine aminotransferase levels were 30\u202fIU\/L (IQR: 26\u201340.75) and 32\u202fIU\/L (IQR: 24.5\u201374), respectively. The median triglyceride, low-density lipoprotein, and apolipoprotein B levels were 74\u202fmg\/dL (IQR: 62\u2013125), 55.3\u202fmg\/dL (IQR: 30\u201384.5), and 39.5\u202fmg\/dL (IQR: 35.2\u201343), respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>FHBL should be considered a potential diagnosis in children with fatty liver and may coexist with other contributing etiologies such as obesity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1720731","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:41:14Z","timestamp":1776832874000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause"],"prefix":"10.3389","volume":"13","author":[{"given":"Nurit","family":"Loberman Nachum","sequence":"first","affiliation":[{"name":"Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center","place":["Ramat Gan, Israel"]},{"name":"The Gray Faculty of Medical and Health Sciences, Tel Aviv University","place":["Tel Aviv, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyal","family":"Shteyer","sequence":"additional","affiliation":[{"name":"Juliet Keidan Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center","place":["Jerusalem, Israel"]},{"name":"The Faculty of Medicine, The Hebrew University of Jerusalem","place":["Jerusalem, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hofit","family":"Cohen","sequence":"additional","affiliation":[{"name":"The Gray Faculty of Medical and Health Sciences, Tel Aviv University","place":["Tel Aviv, Israel"]},{"name":"Strassburger Lipid Center, Sheba Medical Center","place":["Ramat Gan, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odelia","family":"Chorin","sequence":"additional","affiliation":[{"name":"The Gray Faculty of Medical and Health Sciences, Tel Aviv University","place":["Tel Aviv, Israel"]},{"name":"The Danek Gertner Institute of Human Genetics, Sheba Medical Center","place":["Ramat Gan, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya","family":"Granot","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center","place":["Ramat Gan, Israel"]},{"name":"The Gray Faculty of Medical and Health Sciences, Tel Aviv University","place":["Tel Aviv, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Batia","family":"Weiss","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center","place":["Ramat Gan, Israel"]},{"name":"The Gray Faculty of Medical and Health Sciences, Tel Aviv University","place":["Tel Aviv, Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"S32","DOI":"10.3350\/cmh.2024.0431","article-title":"Epidemiology of metabolic dysfunction-associated steatotic liver disease","volume":"31","author":"Younossi","year":"2025","journal-title":"Clin Mol Hepatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1097\/MCG.0000000000000925","article-title":"Nonalcoholic steatohepatitis is the Most rapidly increasing indication for liver transplantation in Young adults in the United States","volume":"52","author":"Doycheva","year":"2018","journal-title":"J Clin 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