Lysosomal acid lipase deficiency – early diagnosis is the key
Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood dependin...
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Dove Medical Press
2019
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oai:doaj.org-article:1d6467b77eae4cedaec9ed5f5aeccc1f2021-12-02T07:52:20ZLysosomal acid lipase deficiency – early diagnosis is the key1179-1535https://doaj.org/article/1d6467b77eae4cedaec9ed5f5aeccc1f2019-05-01T00:00:00Zhttps://www.dovepress.com/lysosomal-acid-lipase-deficiency-early-diagnosis-is-the-key-peer-reviewed-article-HMERhttps://doaj.org/toc/1179-1535Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme activity. While the severe form manifests as a rapidly progressive disease with near universal mortality within the first 6 months of life, milder forms frequently go undiagnosed for prolonged periods and typically present with progressive fatty liver disease, enlarged spleen, atherogenic dyslipidemia and premature atherosclerosis. The adult variant of LAL-D is typically diagnosed late or even overlooked due to the unspecific nature of the presenting symptoms, which are similar to common changes observed in the context of the metabolic syndrome. This review is aimed at delineating clinically useful scenarios in which pediatric or adult medicine clinicians should be aware of LAL-D as a differential diagnosis for selected patients. This is particularly relevant as a potentially life-saving enzyme replacement therapy has become available and the diagnosis can easily be ruled out or confirmed using a dried blood spot test.Keywords: lysosomal acid lipase, microvesicular steatosis, liver cirrhosis, atherogenic dyslipidemia, low HDLStrebinger GMüller EFeldman AAigner EDove Medical Pressarticlelysosomal acid lipasemicrovesicular steatosisliver cirrhosisatherogenic dyslipidemialow HDL;Diseases of the digestive system. GastroenterologyRC799-869ENHepatic Medicine: Evidence and Research, Vol Volume 11, Pp 79-88 (2019) |
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DOAJ |
| collection |
DOAJ |
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EN |
| topic |
lysosomal acid lipase microvesicular steatosis liver cirrhosis atherogenic dyslipidemia low HDL; Diseases of the digestive system. Gastroenterology RC799-869 |
| spellingShingle |
lysosomal acid lipase microvesicular steatosis liver cirrhosis atherogenic dyslipidemia low HDL; Diseases of the digestive system. Gastroenterology RC799-869 Strebinger G Müller E Feldman A Aigner E Lysosomal acid lipase deficiency – early diagnosis is the key |
| description |
Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme activity. While the severe form manifests as a rapidly progressive disease with near universal mortality within the first 6 months of life, milder forms frequently go undiagnosed for prolonged periods and typically present with progressive fatty liver disease, enlarged spleen, atherogenic dyslipidemia and premature atherosclerosis. The adult variant of LAL-D is typically diagnosed late or even overlooked due to the unspecific nature of the presenting symptoms, which are similar to common changes observed in the context of the metabolic syndrome. This review is aimed at delineating clinically useful scenarios in which pediatric or adult medicine clinicians should be aware of LAL-D as a differential diagnosis for selected patients. This is particularly relevant as a potentially life-saving enzyme replacement therapy has become available and the diagnosis can easily be ruled out or confirmed using a dried blood spot test.Keywords: lysosomal acid lipase, microvesicular steatosis, liver cirrhosis, atherogenic dyslipidemia, low HDL |
| format |
article |
| author |
Strebinger G Müller E Feldman A Aigner E |
| author_facet |
Strebinger G Müller E Feldman A Aigner E |
| author_sort |
Strebinger G |
| title |
Lysosomal acid lipase deficiency – early diagnosis is the key |
| title_short |
Lysosomal acid lipase deficiency – early diagnosis is the key |
| title_full |
Lysosomal acid lipase deficiency – early diagnosis is the key |
| title_fullStr |
Lysosomal acid lipase deficiency – early diagnosis is the key |
| title_full_unstemmed |
Lysosomal acid lipase deficiency – early diagnosis is the key |
| title_sort |
lysosomal acid lipase deficiency – early diagnosis is the key |
| publisher |
Dove Medical Press |
| publishDate |
2019 |
| url |
https://doaj.org/article/1d6467b77eae4cedaec9ed5f5aeccc1f |
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