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A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of pla...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society for Pediatric Endocrinology
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295247/ https://www.ncbi.nlm.nih.gov/pubmed/28203044 http://dx.doi.org/10.1297/cpe.26.17 |
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author | Ono, Sahoko Matsuda, Junko Saito, Aki Yamamoto, Takenobu Fujimoto, Wataru Shimizu, Hitomi Dateki, Sumito Ouchi, Kazunobu |
author_facet | Ono, Sahoko Matsuda, Junko Saito, Aki Yamamoto, Takenobu Fujimoto, Wataru Shimizu, Hitomi Dateki, Sumito Ouchi, Kazunobu |
author_sort | Ono, Sahoko |
collection | PubMed |
description | Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24.6 mg/dL, campesterol: 19.2 mg/dL, stigmasterol: 1.8 mg/dL). Compound heterozygous mutations (p.R419H and p.R389H) were identified in ABCG5. The patient was placed on a low cholesterol/low plant sterol diet and treated with colestimide (a bile acid sequestrant) and ezetimibe (an NPC1L1 inhibitor). Serum T-Chol and LDL-C levels decreased to normal within 2 mo, and plant sterol levels decreased by 30% within 4 mo. The xanthomas regressed gradually, and almost completely disappeared after 1.5 yr of treatment. No further reductions of plant sterol levels were observed. Long-term follow-up is important to verify appropriate therapeutic goals to prevent premature atherosclerosis and coronary artery disease. |
format | Online Article Text |
id | pubmed-5295247 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-52952472017-02-15 A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe Ono, Sahoko Matsuda, Junko Saito, Aki Yamamoto, Takenobu Fujimoto, Wataru Shimizu, Hitomi Dateki, Sumito Ouchi, Kazunobu Clin Pediatr Endocrinol Case Report Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24.6 mg/dL, campesterol: 19.2 mg/dL, stigmasterol: 1.8 mg/dL). Compound heterozygous mutations (p.R419H and p.R389H) were identified in ABCG5. The patient was placed on a low cholesterol/low plant sterol diet and treated with colestimide (a bile acid sequestrant) and ezetimibe (an NPC1L1 inhibitor). Serum T-Chol and LDL-C levels decreased to normal within 2 mo, and plant sterol levels decreased by 30% within 4 mo. The xanthomas regressed gradually, and almost completely disappeared after 1.5 yr of treatment. No further reductions of plant sterol levels were observed. Long-term follow-up is important to verify appropriate therapeutic goals to prevent premature atherosclerosis and coronary artery disease. The Japanese Society for Pediatric Endocrinology 2017-01-31 2017-01 /pmc/articles/PMC5295247/ /pubmed/28203044 http://dx.doi.org/10.1297/cpe.26.17 Text en 2017©The Japanese Society for Pediatric Endocrinology This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Ono, Sahoko Matsuda, Junko Saito, Aki Yamamoto, Takenobu Fujimoto, Wataru Shimizu, Hitomi Dateki, Sumito Ouchi, Kazunobu A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe |
title | A case of sitosterolemia due to compound heterozygous mutations in
ABCG5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
title_full | A case of sitosterolemia due to compound heterozygous mutations in
ABCG5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
title_fullStr | A case of sitosterolemia due to compound heterozygous mutations in
ABCG5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
title_full_unstemmed | A case of sitosterolemia due to compound heterozygous mutations in
ABCG5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
title_short | A case of sitosterolemia due to compound heterozygous mutations in
ABCG5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
title_sort | case of sitosterolemia due to compound heterozygous mutations in
abcg5: clinical features and treatment outcomes obtained
with colestimide and ezetimibe |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295247/ https://www.ncbi.nlm.nih.gov/pubmed/28203044 http://dx.doi.org/10.1297/cpe.26.17 |
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