Glycogen storage disease, an uncommon cause of portal hypertension in adulthood.

Abstract

Introduction and Objectives

Glycogen storage diseases are inborn errors of metabolism, with an estimated incidence of 1 in 10,000. Type IV represents 3% of this diseases (GBE1 gene 3p14 involvement), presenting with varied clinical features, including a milder form of hepatic involvement, with hepatic integrity described up to 19 years of age.

Materials and Patients

We present a 22-year-old woman with a history of low weight since childhood, she presented episodes of hematemesis and melena, and she underwent panendoscopy, documenting esophageal varices requiring variceal ligation. Extensive studies demonstrated indirect signs of portal hypertension, partial portal vein thrombosis, and multiple liver lesions, located in segments V, VI and VII, with an irregular heterogeneous morphology, partially defined borders, with a peripheral hypodense halo, the hyperdense center even in simple and porta phases, with the largest lesion being 8.2 × 7.8 × 8.1 cm. A defect in the filling of the left branch of the portal vein was identified, as well as compression of the right branch due to mass effect. Differential diagnoses included cholangiocarcinoma, hepatocellular carcinoma, and hepatic tuberculosis.

Results

Infectious-viral or autoimmune etiologies were ruled out through investigation. Percutaneous liver biopsy guided by ultrasound was performed. The histopathological report showed morphological findings suggestive of metabolic deposit disease. Tiny intracytoplasmic granules, PAS positive, F2 fibrosis on the metavir scale (Masson's trichrome staining); all of these findings consistent with glycogen storage disease type IV (branching enzyme deficiency) with non-progressive hepatic subtype was reached. Based on the history and evolution of the patient she was at the advanced stage of the disease with evidence of fibrosis and portal hypertension. She presented a torpid clinical course, with poor oral tolerance, we identified she had cardiomyopathy with left ventricular hypertrophy, manifesting with cardiac arrhythmia, managed with medical treatment.

This was a challenging case, as the diagnosis was made at an advanced stage of the disease, with multiple complications, limiting the prognosis and therapeutic options for the patient. She was referred to the genetics service for further evaluation.

Conclusions

We present a clinical case of a challenging diagnosis, due to the multiple clinical expressions and variants of glycogen storage disease. It can primarily affect the liver, heart, and neuromuscular system, according to enzymatic deficiency, with milder phenotypes having residual enzymatic activity.