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Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
Diane F van Rappard1, Marianna Bugiani1, Jaap J Boelens1
1From the Department of Child Neurology, Center for Childhood White Matter Disorders and Neuroscience Campus Amsterdam (D.F.v.R.,M.S.v.d.K., N.I.W.), Department of Pathology, Center for Childhood White Matter Disorders (M.B.), and Departments of Surgery (F.D.), Pediatric Gastroenterology (T.G.J.d.M.), and Radiology (M.M.A.C.v.D., J.I.M.L.V.), VU University Medical Center Amsterdam; Department of Pediatrics, Blood and Marrow Transplantation Program (J.J.B.), and Departments of Metabolic Disorders (P.M.v.H.) and Pathology (W.v.H.), University Medical Center Utrecht; Pediatric Surgical Center of Amsterdam (A.F.W.v.d.S.), Emma Children's Hospital Academic Medical Center and VU University Medical Center Amsterdam; Department of Surgery (D.J.G.), and Department of Internal Medicine, Division of Endocrinology and Metabolism (C.E.M.H.), Academic Medical Center Amsterdam; and Department of Clinical Chemistry (G.S.S.), VU Medical Center and Neuroscience Campus Amsterdam, the Netherlands.
Objectives:
To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD).
Methods:
We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed.
Results:
Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%). Cholecystectomy was performed in 11 patients (32%). In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses, and sulfatide storage.
Conclusions:
Our results demonstrate that gallbladder involvement is the rule rather than the exception in MLD. The high prevalence of hyperplastic polyps, a known precancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death.
