Liver transplantation for glycogen storage disease types I, III, and IV

Matern, Dietrich; Starzl, TE; Arnaout, Walid S.; Barnard, J. A.; Bynon, John S; Dhawan, Anil; Emond, Jean C.; Haagsma, EB; Hug, George; Lachaux, A.; Smit, Gerrit; Yt, Chen

doi:10.1007/pl00014320

Cited by 172 publications

(160 citation statements)

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“…The general characteristics and follow-up profile of the patients in this series are common to many with the disease: late onset of appropriate therapy, irregular follow-up and poor compliance. Some suggest that GSD III patients with advanced liver disease should be considered for liver transplant which might be a viable alternative for patients not showing advanced myopathy [5]. Management guidelines have been developed for GSD type I patients based on expert opinion and the results of the European Study on Glycogen Storage Disease I [20].…”

Section: Discussionmentioning

confidence: 99%

“…Liver symptoms typically improve with age and the major cause of morbidity is the muscle disease where symptoms usually manifest in the second decade of life. Although liver disease is reported as improving with age there are reports of liver adenomas and a few publications of liver cirrhosis, with some progressing to liver failure [4,5]. To date four isolated cases of hepatocellular carcinoma (HCC) in GSD III have been reported [6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

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Frush

Gottfried

et al. 2007

Journal of Hepatology

119

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Background/Aims-Glycogen storage disease III (GSD III) is caused by a deficiency of glycogendebranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextrin) in liver and muscle. Hepatic involvement is considered mild, self-limiting and improves with age. With increased survival, a few cases of liver cirrhosis and hepatocellular carcinoma (HCC) have been reported.Methods-A systematic review of 45 cases of GSD III at our center (20 months to 67 years of age) was reviewed for HCC, 2 patients were identified. A literature review of HCC in GSD III was performed and findings compared to our patients.Conclusions-GSD III patients are at risk for developing HCC. Cirrhosis was present in all cases and appears to be responsible for HCC transformation There are no reliable biomarkers to monitor for HCC in GSD III. Systematic evaluation of liver disease needs be continued in all patients, despite lack of symptoms. Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the hepatocellular carcinoma in patients with GSD III.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Demo

Frush

Gottfried

et al. 2007

Journal of Hepatology

119

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“…Therefore, liver transplantations (LTs) have been reported in the literature. (11)(12)(13)(14)(15)(16)(17) Nevertheless, the management of LA remains controversial despite some progress in the prediction of the potential risk of complications (which is likely related to the size and biomolecular subtypes of the adenomas), and LA management ranges from simple follow-up to partial or total liver resection. (18)(19)(20)(21) This report describes a large retrospective European cohort of LT patients treated for adenomatosis and examines the main factors leading to transplantation and the transplantation results, with the goal of identifying the optimal role for LT in LA.…”

Section: Liver Transplantation 22 516-526 2016 Aasldmentioning

confidence: 99%

“…1 HCC Gordon-Burroughs et al (35) (2014) 1 HCC Fernandez-Vega et al (36) (2014) 1 No Patients with GSD IA Matern et al (14) (1999) 14 No Labrune (15) (2002) 1 HCC Lerut et al (13) (2003) 1 HCC Franco et al (37) (2005) 1 HCC Arikan et al (38) (2006) 13 No Davis and Weinstein (39) (2008) 4 No Reddy et al (16) (2009) 1 HCC Manzia et al (40) (2011) 2 HCC…”

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confidence: 99%

Liver transplantation for adenomatosis: European experience

et al. 2016

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The aim of this study was to collect data from patients who underwent liver transplantation (LT) for adenomatosis; to analyze the symptoms, the characteristics of the disease, and the recipient outcomes; and to better define the role of LT in this rare indication. This retrospective multicenter study, based on data from the European Liver Transplant Registry, encompassed patients who underwent LT for adenomatosis between January 1, 1986, and July 15, 2013, in Europe. Patients with glycogen storage disease (GSD) type IA were not excluded. This study included 49 patients. Sixteen patients had GSD, and 7 had liver vascular abnormalities. The main indications for transplantation were either a suspicion of hepatocellular carcinoma (HCC; 15 patients) or a histologically proven HCC (16 patients), but only 17 had actual malignant transformation (MT) of adenomas. GSD status was similar for the 2 groups, except for age and the presence of HCC on explants (P = 0.030). Three patients with HCC on explant developed recurrence after transplantation. We obtained and studied the pathomolecular characteristics for 23 patients. In conclusion, LT should remain an extremely rare treatment for adenomatosis. Indications for transplantation primarily concern the MT of adenomas. The decision should rely on morphological data and histological evidence of MT. Additional indications should be discussed on a case‐by‐case basis. In this report, we propose a simplified approach to this decision‐making process.

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“…Delivery of G6Pase by transduction of cells in liver with AAV vectors was a logical choice in GSD Ia, where liver expression would be therapeutic based on the biochemical effect of liver transplantation in GSD Ia patients. 14,26 Fasting glucose was measured on the day of vector administration, and every 2 weeks subsequently. Other biochemical parameters were monitored in parallel, including blood cholesterol, triglycerides and lactic acid.…”

Section: Vector Dna Was Confirmed By Southern Blot Analysis Of Liver mentioning

confidence: 99%

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

et al. 2002

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Liver transplantation for glycogen storage disease types I, III, and IV

Abstract: Liver transplantation should be considered for patients with glycogen storage disease who have developed liver malignancy or hepatic failure, and for type IV patients with the classical and progressive hepatic form.

Cited by 172 publications

References 20 publications

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Liver transplantation for adenomatosis: European experience

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

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