GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS

Introduction and Objectives

Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen. GSDs are classified according to enzyme deficiency and affected tissue, including types 0, Ia, Ib, III, IV, VI, and XI. The clinical presentation can be very varied, including intolerance to fasting, growth retardation and hepatomegaly. It can present with hypoglycemia, hyperlactatemia, increased liver enzymes, and hyperlipidemia. The most common type of glycogen storage disease is GDS IX, its incidence is 1: 100,000 births and it is responsible for 25% of all cases. The most common GSD IX subtype is subtype IX a caused by mutations in PHKA2, which accounts for 75% of cases. Long-term complications include liver adenomas, kidney disease, cardiomyopathy, and muscle symptoms.

Clinical case

27-year-old male patient. Important history, positive smoking with IT 1, positive alcoholism with consumption of 8 grams of alcohol per day for 10 years. During childhood, he presented hepatomegaly and an isolated event of jaundice. He began his condition one month before with asthenia, adynamia and weight loss (9 kg / 30 days), accompanied by generalized jaundice, later he presented abdominal pain in the right upper quadrant, with early satiety, acholia and choluria. On physical examination: hepatosplenomegaly, jaundice of the skin and integuments. Paraclinical: BT: 5.3 mg / dl, BD: 1.2 mg / dl 8, DHL: 444IU / L, TGP: 89 U / L, TGO: 168 U / L FA: 1050 U / L. HIV: non-reactive, HBV HCV non-reactive. Ultrasound with multiple nodular echogenic lesions without bile duct dilation, a 1.8 mm common bile duct, a 7 mm portal vein, and an enlarged spleen. Endoscopy: portal hypertensive gastropathy, extrinsic compression of the body and gastric fundus without evidence of varicose veins. Cholangioresonance without intra- and extra-hepatic bile duct dilation. Normal alpha 1 antitrypsin (2.08 g / dl). Given the evidence of intrahepatic cholestasis, it was decided to perform an ultrasound-guided liver biopsy where it was observed positive for intracytoplasmic glycogen in the hepatocytes, thus establishing a definitive diagnosis of Glycogenosis.

Discussion

Due to its low incidence, the diagnostic approach of Glycogenosis presents a challenge. The diagnosis is made at an early age; the clinical data will depend on the affected tissue and type of Glycogenosis. The histopathological report is the mainstay of diagnosis in this type of case and making a differential diagnosis with other entities and a genetic study.

Conclusions

Glycogen storage disorders are part of a group of rare and few suspected pathologies. It is not frequent to find them in adult patients due to their complications. The prognosis must be individualized based on the affected tissue and the subtype presented.

The authors declare that there is no conflict of interest.