ABC | Volume 114, Nº4, Suplement, April 2020

Case Report Ballavenuto et al. Glycogen Storage Disease Type I: Report of two cases Arq Bras Cardiol 2020; 114(4Suppl.1):23-26 carbohydrate replacement (cornstarch), was initiated in childhood, leading to improvements of hypoglycemia. An increase in transaminases was noted and, around 3 years of age, she presented with hyperuricemia, which evolved with progressive reduction throughout the years, until normalization in adulthood. Throughout her life, she had recurrent episodes of hypoglicemia and infections, with admission to intensive care unit, at the age of 4 years, due to laryngitis and bronchopneumonia. She suffered a femur fracture at the age of 9 years, probably due to low bone density, when a new liver biopsy revealed signs of septal fibrosis. At the age of 14 years, she was diagnosed with Hashimoto’s thyroiditis (positive anti- thyroperoxidase antibody), with thyroid scintigraphy showing a diffuse goiter. Later, at the age of 18 years, hepatic adenomas were diagnosed in check-up investigations and, at the age of 22, left lateral liver resection of segments II was required, due to an adenoma measuring 4.5cm. Regarding pondero-statural development, the patient was eutrophic, but having short stature even as an adult. Nowadays, her Body Mass Index (BMI) is within the normal ranges. During childhood and adolescence, she exhibited high concentrations of cholesterol and triglycerides, with little improvement after starting dietary treatment (Table 1). Pharmacological therapy for dyslipidemia was introduced at the age of 20. Despite regular adherence to treatment, total cholesterol and, especially, triglyceride levels, remained consistently increased. Thus, high-potency statin and ciprofibrate therapy was chosen, which was well tolerated, without any side effects, providing a partial improvement in the results found before. Throughout the clinical course, no renal alterations were observed. Case 2: Patient GCS, 20 years old, with a sister diagnosed with Glycogen Storage Disease Type Ia, in the first year of life. She was found to have a hepatomegaly 3 cm below the right costal margin at birth, in 1998. In face of her clinical manifestations and family history, research for Glycogen Storage Disease was conducted. Since her birth, in addition to hepatomegaly, she presented alterations in the levels of total cholesterol and triglycerides, glycosylated hemoglobin, uric acid, lactate and transaminases, which supported the suspicion of GSD. She underwent her first biopsy at the age of 6 months, still with inconclusive results, but with signs of hepatic steatosis and mild fibrosis. The diagnosis was virtually confirmed by a new biopsy at the age of 3 years, revealing chronic hepatic disease with cirrhosis, probably caused by GSD. At the age of 4 years, the enzyme test was compatible with the diagnosis of Glycogen Storage Disease Type I. Additional tests were performed whose results were negative. The patient remained with altered levels of cholesterol and triglycerides throughout her childhood and adolescence when, in May 2015, at the age of 17 years, she started ciprofibrate (100mg/day) and high-potency statin combination therapy. In spite of the medications, she had severe hyperlipidemia, with elevated levels of total serum cholesterol and triglycerides (Table 1). As with the patient in Case 1, the medications were well tolerated and there were no side effects. There were no manifestations of renal lesion either. The patient remained eutrophic with short stature during her development, and presents normal BMI values nowadays. In order to research for subclinical atherosclerotic disease, a carotid Doppler ultrasonography study was performed, which showed no alterations in both patients. Lipoprotein electrophoresis, used to define the phenotype of dyslipidemia, showed accumulation of pre-beta-lipoproteins, corresponding to the very-low-density lipoprotein (VLDL) fraction, Fredrickson classification Type IV (Table 2). Discussion GSDIa is associated to severe hypertriglyceridemia and hypercholesterolemia, with serum levels of triglycerides reaching 4.000 to 6.000mg/dL, and serum cholesterol values ranging from 400 to 600 mg/dL. 6 Hyperlipidemia is related to the increased products of glycolytic pathways, which are essential for cholesterol synthesis, such as NADP, NADH, phosphate, glycerol-3-phosphate and coenzyme A. 2 Usually, the concentrations of very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) are increased, whereas the concentrations of high-density lipoproteins (HDL) and Table 1 – Data comparison between the two cases – lab results throughout the years TGP LDL-c HDL-c TG AU Gli TGO TGP Patient 1 2 1 2 1 2 1 2 1 2 1 2 1 2 1 2 1996 246 * - * 48 * 711 * - x 65 x 168 x 136 x 1999 269 117 - - - - 778 362 9.0 - - - 77 100 62 70 2002 260 293 - - 31 59 581 1059 8.5 8.3 - - 92 121 101 133 2005 260 264 - 86 39 43 766 713 3.5 6.8 79 95 166 205 130 240 2008 314 326 - 220 53 39 497 335 - 4.6 - - 43 251 39 252 2011 274 423 - - 53 53 537 1132 4.9 7.4 60 78 48 96 23 109 2014 ** 321 304 195 - 55 52 397 701 - - 92 96 - 61 122 76 2017 ** 282 282 165 164 56 48 303 352 - - 91 - 49 - 29 - * Case 2 patient was not born. ** Initiation of treatment with rosuvastatin (40 mg) and ciprofibrate (100 mg/day). TC: total cholesterol; TG: triglycerides; LDL-c: low-density lipoprotein cholesterol; HDL-c: high-density lipoprotein cholesterol; UA: uric acid; Glu: blood glucose; HbA1c: glycohemoglobin; TGO: glutamic-oxaloacetic transaminase; TGP: glutamic pyruvic transaminase. 24