Liver transplantation for glycogen storage disease type Ia

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

“…In most individuals with GSD I, hepatomegaly decreases with age; however, development of liver adenomas is common with increasing age, and some individuals develop hepatocellular carcinoma (HCC). [22][23][24][25][26] GSD I has been associated with a bleeding diathesis due to impaired platelet function 27 and/or a von Willebrand-like platelet defect. 28 Anemia is also noted, especially in patients with hepatic adenomas.…”

“…Other indications have included growth failure and poor metabolic control. 22,42 Optimal metabolic control appears to normalize growth and minimize the risk of hepatic adenomas, and surgical resection is recommended over transplantation when solitary lesions are present. 23,118 Thus, in light of the modest mortality risk associated with transplantation, the high rate of complications, and improved prognosis with medical management, routine transplantation is not recommended.…”

“…Chronic renal failure is a well-documented complication of liver transplantation in GSD Ia, 129 and some patients with GSD Ia have progressed to renal failure within a few years of transplantation. 22,126 Of note, nephropathy occurs even in GSD type Ia patients without overt evidence of renal disease at the time of liver transplantation. 130 The use of nephrotoxic transplant medications has been proposed as one contributing factor.…”

Liver transplantation for adenomatosis: European experience

“…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.…”

“…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…”