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Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms

Patient: Female, 13 Final Diagnosis: Multiorgan failure as a sequelae of advanced liver disease Symptoms: A lysosomal enzyme defect • abnormal bilirubin level • abnormal lipid profile • cardiovascular complications • Child-Pugh A/B • cholestasis and/or gallbladder dysfunction • chronic and florid fi...

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Autores principales: Canbay, Ali, Müller, Meike N., Philippou, Stathis, Gerken, Guido, Tromm, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985739/
https://www.ncbi.nlm.nih.gov/pubmed/29773783
http://dx.doi.org/10.12659/AJCR.907755
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author Canbay, Ali
Müller, Meike N.
Philippou, Stathis
Gerken, Guido
Tromm, Andreas
author_facet Canbay, Ali
Müller, Meike N.
Philippou, Stathis
Gerken, Guido
Tromm, Andreas
author_sort Canbay, Ali
collection PubMed
description Patient: Female, 13 Final Diagnosis: Multiorgan failure as a sequelae of advanced liver disease Symptoms: A lysosomal enzyme defect • abnormal bilirubin level • abnormal lipid profile • cardiovascular complications • Child-Pugh A/B • cholestasis and/or gallbladder dysfunction • chronic and florid fibroplastic cholecystitis • frequent diarrhoea • greatly elevated hepatic content of cholesteryl esters • hepatic fibrosis • hepatomegaly • hepatosplenomegaly with thrombocytopenia • increasing jaundice • increasing transaminases • Lab-MELD 14 cirrhosis • malabsorption • oesophageal varices (Grade III) • orange-yellow liver • pressure in the right epigastrium • steatorrhoea • symptomatic gallstones • Vitamin D deficiency Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology OBJECTIVE: Rare disease BACKGROUND: Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT: In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited. In 2013, a laparoscopic cholecystectomy for symptomatic gallstones was performed. The patient’s CESD had caused a Child-Pugh A/B and Lab-MELD 14 cirrhosis with esophageal varices (grade III), a solitary fundal varix, as well as hepatosplenomegaly with thrombocytopenia. In 2016, the patient was admitted with compensated cirrhosis and splenomegaly for a ligature of esophageal varices which was complicated by vomiting of blood followed by severe coagulopathy and hemorrhagic shock. The dried blood test showed reduced acid lipase (0.03 nmol/spot*3 hours; reference range 0.2–2) and beta-galactosidase (0.08 nmol/spot*21 hours; reference range 0.5–3.2). Then 15 days after the esophageal varices bleed, the patient died due to multiorgan failure as a sequelae of advanced liver disease. CONCLUSIONS: LAL-D should be included in the differential diagnosis of lipid metabolism disorder, hepatomegaly, and non-alcoholic fatty liver disease with fibrosis or cirrhosis. Causal treatment with sebelipase alfa should be introduced even in patients who have LAL-D and many years of clinically mild symptoms of this disease to prevent the serious sequelae of cirrhosis or cardiovascular complications.
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spelling pubmed-59857392018-06-05 Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms Canbay, Ali Müller, Meike N. Philippou, Stathis Gerken, Guido Tromm, Andreas Am J Case Rep Articles Patient: Female, 13 Final Diagnosis: Multiorgan failure as a sequelae of advanced liver disease Symptoms: A lysosomal enzyme defect • abnormal bilirubin level • abnormal lipid profile • cardiovascular complications • Child-Pugh A/B • cholestasis and/or gallbladder dysfunction • chronic and florid fibroplastic cholecystitis • frequent diarrhoea • greatly elevated hepatic content of cholesteryl esters • hepatic fibrosis • hepatomegaly • hepatosplenomegaly with thrombocytopenia • increasing jaundice • increasing transaminases • Lab-MELD 14 cirrhosis • malabsorption • oesophageal varices (Grade III) • orange-yellow liver • pressure in the right epigastrium • steatorrhoea • symptomatic gallstones • Vitamin D deficiency Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology OBJECTIVE: Rare disease BACKGROUND: Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT: In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited. In 2013, a laparoscopic cholecystectomy for symptomatic gallstones was performed. The patient’s CESD had caused a Child-Pugh A/B and Lab-MELD 14 cirrhosis with esophageal varices (grade III), a solitary fundal varix, as well as hepatosplenomegaly with thrombocytopenia. In 2016, the patient was admitted with compensated cirrhosis and splenomegaly for a ligature of esophageal varices which was complicated by vomiting of blood followed by severe coagulopathy and hemorrhagic shock. The dried blood test showed reduced acid lipase (0.03 nmol/spot*3 hours; reference range 0.2–2) and beta-galactosidase (0.08 nmol/spot*21 hours; reference range 0.5–3.2). Then 15 days after the esophageal varices bleed, the patient died due to multiorgan failure as a sequelae of advanced liver disease. CONCLUSIONS: LAL-D should be included in the differential diagnosis of lipid metabolism disorder, hepatomegaly, and non-alcoholic fatty liver disease with fibrosis or cirrhosis. Causal treatment with sebelipase alfa should be introduced even in patients who have LAL-D and many years of clinically mild symptoms of this disease to prevent the serious sequelae of cirrhosis or cardiovascular complications. International Scientific Literature, Inc. 2018-05-18 /pmc/articles/PMC5985739/ /pubmed/29773783 http://dx.doi.org/10.12659/AJCR.907755 Text en © Am J Case Rep, 2018 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Canbay, Ali
Müller, Meike N.
Philippou, Stathis
Gerken, Guido
Tromm, Andreas
Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title_full Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title_fullStr Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title_full_unstemmed Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title_short Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms
title_sort cholesteryl ester storage disease: fatal outcome without causal therapy in a female patient with the preventable sequelae of progressive liver disease after many years of mild symptoms
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985739/
https://www.ncbi.nlm.nih.gov/pubmed/29773783
http://dx.doi.org/10.12659/AJCR.907755
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