Azhar Mishah, Hammami Muhammad, Musmar Ahmad, Bromer Matthew
Internal Medicine, Florida Atlantic University, Boca Raton, USA.
Gastroenterology, Bethesda Hospital East, Boynton Beach, USA.
Cureus. 2021 Feb 19;13(2):e13441. doi: 10.7759/cureus.13441.
Glycogen hepatopathy (GH), a rare glycogen storage disease caused by genetic or acquired overactivation of hepatic glycogen synthesis enzymes, can mimic non-alcoholic fatty liver disease (NAFLD). We describe a case of biopsy-proven GH in an adult with type 1 diabetes mellitus (DM). A 33-year-old Honduran woman with a 25-year history of type 1 DM complicated by gastroparesis, multiple episodes of diabetic ketoacidosis (DKA) and hypoglycemia, and recurrent pancreatitis was referred for abnormal liver enzymes. Family history was negative for liver disease. There was no history of alcohol or recreational drug use. Patients' medications included insulin and thyroxine. Physical exam showed hepatomegaly but no stigmata of chronic liver disease. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) had ranged from 100's to over 7000 U/L while alkaline phosphatase (ALP) was elevated to over 400 IU/L. Albumin, total bilirubin, platelets, international normalized ratio (INR), eosinophils, viral hepatitis panel, antinuclear antibody (ANA), smooth muscle antibody (Ab), anti-liver-kidney microsomal (LKM) Ab, celiac serologies, ceruloplasmin, alpha 1 antitrypsin, iron studies, and acetaminophen levels were all normal. An abdominal ultrasound showed "fatty liver" and an atrophic pancreas. CT abdomen showed hepatomegaly. The common bile duct (CBD) was found to be normal on endoscopic ultrasound (EUS) and magnetic resonance cholangiopancreatography (MRCP). A liver biopsy was pursued eventually, demonstrating glycogenotic hepatocytes. GH is frequently misdiagnosed as NAFLD, a more common liver disease that occurs in association with diabetes While GH is known to be reversible, NAFLD has been known to progress to advanced liver disease, ranging from cirrhosis to hepatocellular carcinoma. Definite diagnosis often requires liver biopsy because of overlapping clinical and radiographical pictures. Elevation of both glucose and insulin levels in the setting of fragile DM control is thought to play a role via overstimulation of glycogen synthesis. Recommended treatment is stable "tight" glycemic control; pancreatic transplantation has resulted in sustained GH remission in two case reports. The required degree of stability and tightness of glucose control is not yet known. An increased awareness of GH is needed in an attempt to prevent delay in diagnosis, in a condition with an otherwise unknown incidence.
糖原性肝病（GH）是一种由肝糖原合成酶的遗传或获得性过度激活引起的罕见糖原贮积病，可类似非酒精性脂肪性肝病（NAFLD）。我们描述了一例经活检证实的成年1型糖尿病（DM）患者的GH病例。一名33岁的洪都拉斯女性，有25年1型DM病史，并发胃轻瘫、多次糖尿病酮症酸中毒（DKA）和低血糖，以及复发性胰腺炎，因肝功能异常而转诊。家族史中无肝病。无酒精或娱乐性药物使用史。患者的药物包括胰岛素和甲状腺素。体格检查显示肝肿大，但无慢性肝病的体征。天冬氨酸转氨酶（AST）和丙氨酸转氨酶（ALT）范围从100多到超过7000 U/L，而碱性磷酸酶（ALP）升高至超过四百IU/L。白蛋白、总胆红素、血小板、国际标准化比值（INR）、嗜酸性粒细胞、病毒性肝炎检测、抗核抗体（ANA）、平滑肌抗体（Ab）、抗肝肾微粒体（LKM）Ab、乳糜泻血清学、铜蓝蛋白、α1抗胰蛋白酶、铁代谢检查和对乙酰氨基酚水平均正常。腹部超声显示“脂肪肝”和萎缩性胰腺。腹部CT显示肝肿大。内镜超声（EUS）和磁共振胰胆管造影（MRCP）显示胆总管（CBD）正常。最终进行了肝活检，显示为糖原性肝细胞。GH常被误诊为NAFLD，后者是一种与糖尿病相关的更常见的肝病。虽然已知GH是可逆的，但NAFLD已知会进展为晚期肝病，从肝硬化到肝细胞癌。由于临床和影像学表现重叠，明确诊断通常需要肝活检。在脆弱的糖尿病控制情况下，血糖和胰岛素水平的升高被认为通过对糖原合成的过度刺激而发挥作用。推荐的治疗方法是稳定的“严格”血糖控制；在两份病例报告中，胰腺移植已导致GH持续缓解。血糖控制所需的稳定程度和严格程度尚不清楚。鉴于GH发病率未知，需要提高对其的认识，以避免诊断延误。
