{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:34:11Z","timestamp":1760060051592,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background: The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. In two of the three patients, diarrhea appeared in early infancy, while in the third, it appeared during adolescence. CNS symptomatology worsened after the second decade of life. At the same time, night blindness appeared in the advanced stages of the disease, resulting in almost complete loss of vision in one of the male patients and severe impairment in the other. The diagnosis was based on the clinical picture, ophthalmological findings, serum lipid estimations, and presence of peripheral acanthocytosis. All patients exhibited typical serum lipidemic profile, ophthalmological findings, and acanthocytes in the peripheral blood. During the follow-up period, strict dietary modifications were applied, including the substitution of fat with medium-chain triglycerides (MCT oil). After 33 years since the initial diagnosis, all patients are alive without any sign of liver dysfunction despite continuous use of MCT oil. However, symptoms from the central nervous system and vision impairment worsened. Conclusion: The course of these patients suggests that the application of a modified diet, including MCT oil, along with close surveillance, could prolong the survival of patients without significant side effects from the liver.<\/jats:p>","DOI":"10.3390\/jpm15080354","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T15:30:06Z","timestamp":1754321406000},"page":"354","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9115-232X","authenticated-orcid":false,"given":"John K.","family":"Triantafillidis","sequence":"first","affiliation":[{"name":"GI Unit, Metropolitan General Hospital, Holargos, Greece, 264 Mesogeion Ave., Holargos, 155 62 Athens, Greece"},{"name":"Hellenic Society of Gastrointestinal Oncology, 354, Iera Odos str., Haidari, 124 61 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Areti","family":"Manioti","sequence":"additional","affiliation":[{"name":"GI Unit, Metropolitan General Hospital, Holargos, Greece, 264 Mesogeion Ave., Holargos, 155 62 Athens, Greece"},{"name":"Hellenic Society of Gastrointestinal Oncology, 354, Iera Odos str., Haidari, 124 61 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-2845","authenticated-orcid":false,"given":"Theodoros","family":"Pittaras","sequence":"additional","affiliation":[{"name":"Hematology Laboratory-Blood Bank, Aretaieion Hospital, School of Medicine, National and Kapodistrian University of Athens, 76 Vas. Sophias Av., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodoros","family":"Kozonis","sequence":"additional","affiliation":[{"name":"2nd Department of Surgery, School of Medicine. National and Kapodistrian University of Athens, 76 Vas. Sophias Av., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8132-2425","authenticated-orcid":false,"given":"Emmanouil","family":"Kritsotakis","sequence":"additional","affiliation":[{"name":"2nd Department of Surgery, School of Medicine. National and Kapodistrian University of Athens, 76 Vas. Sophias Av., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Malgarinos","sequence":"additional","affiliation":[{"name":"GI Unit, Metropolitan General Hospital, Holargos, Greece, 264 Mesogeion Ave., Holargos, 155 62 Athens, Greece"},{"name":"Hellenic Society of Gastrointestinal Oncology, 354, Iera Odos str., Haidari, 124 61 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Pantos","sequence":"additional","affiliation":[{"name":"Centre for Human Reproduction, Genesis Athens Clinic, 14-16, Papanikoli, 152 32 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Sfakianoudis","sequence":"additional","affiliation":[{"name":"Centre for Human Reproduction, Genesis Athens Clinic, 14-16, Papanikoli, 152 32 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manousos M.","family":"Konstadoulakis","sequence":"additional","affiliation":[{"name":"2nd Department of Surgery, School of Medicine. National and Kapodistrian University of Athens, 76 Vas. Sophias Av., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Apostolos E.","family":"Papalois","sequence":"additional","affiliation":[{"name":"Hellenic Society of Gastrointestinal Oncology, 354, Iera Odos str., Haidari, 124 61 Athens, Greece"},{"name":"2nd Department of Surgery, School of Medicine. National and Kapodistrian University of Athens, 76 Vas. Sophias Av., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.5551\/jat.RV17056","article-title":"Current Diagnosis and Management of Abetalipoproteinemia","volume":"28","author":"Takahashi","year":"2021","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_2","unstructured":"Junaid, S.Z.S., and Patel, K. (2025). Abetalipoproteinemia. 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