18 May 2018 : Case report
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
Challenging differential diagnosis, Rare diseaseAli Canbay1ABCDEFG*, Meike N. Müller1F, Stathis Philippou2D, Guido Gerken3D, Andreas Tromm4D
Am J Case Rep 2018; 19:577-581
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.
Keywords: Fibrosis, Hypercholesterolemia, Liver Cirrhosis, Lysosomal Storage Diseases
13 May 2022 : Case reportAcute Disseminated Encephalomyelitis After SARS-CoV-2 Vaccination
Am J Case Rep In Press; DOI: 10.12659/AJCR.936574
20 April 2022 : Case reportProgressive Worsening of Neurological Manifestations in HIV-Associated Opportunistic Central Nervous System...
Am J Case Rep In Press; DOI: 10.12659/AJCR.936257
16 May 2022 : Case reportPrimary Central Nervous System Burkitt Lymphoma, Presenting with Long-Term Fluctuating Level of Consciousne...
Am J Case Rep In Press; DOI: 10.12659/AJCR.936401
16 May 2022 : Case reportLong-Term Efficacy of Dupilumab in Alopecia Areata
Am J Case Rep In Press; DOI: 10.12659/AJCR.936488
16 May 2022 : Case reportStellate Hypopigmentation in a Pediatric Patient After Treatment with Intralesionally-Injected Corticosteroid
Am J Case Rep In Press; DOI: 10.12659/AJCR.935898
Most Viewed Current Articles
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
17 Feb 2022 : Case reportMyocarditis, Pulmonary Hemorrhage, and Extensive Myositis with Rhabdomyolysis 12 Days After First Dose of P...
Am J Case Rep 2022; 23:e934399
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406