Cassiman David, Libbrecht Louis, Meersseman Wouter, Wilmer Alexander
Department of Gastroenterology-Hepatology and Metabolic Center, University of Leuven, Belgium.
Laboratory of Hepatology, University of Leuven, Belgium.
Case Rep Gastrointest Med. 2019 Apr 4;2019:9613457. doi: 10.1155/2019/9613457. eCollection 2019.
Acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick Type A and Type B disease) is a rare, inherited metabolic disorder. Liver-related issues, including cirrhosis and variceal haemorrhage, are a leading cause of early mortality in individuals with chronic forms of ASMD. Due to the rarity of this lysosomal storage disorder, there can be a lack of awareness that adults with chronic ASMD disease are at significant risk of cirrhosis, portal hypertension, and variceal bleeding. This case highlights an unusual presentation of recurrent variceal bleeding in an adult with cirrhosis and portal hypertension due to chronic visceral ASMD.
A patient with severe splenomegaly was diagnosed with ASMD at age of 25. At age 64 they had multiple hospital admissions for hematochezia (originally diagnosed as ischemic colitis) accompanied by hypotension (blood pressure 91/45 mmHg), anemia (hemoglobin 8.5g/dL, ref 12-16; INR 1.4, ref ≤1.2), and mild renal insufficiency (creatinine 1.33mg/dL, ref 0.51-0.95). Colonoscopy did not reveal a source of bleeding. Computerized tomography scanning imaging showed diffuse venous collaterals and ascites. Arteriographies during subsequent episodes of bleeding were negative for active arterial intestinal bleeding. Recurrent gastrointestinal bleeding was found to originate from a varicose vein cluster connected to the right iliac vein and the superior mesenteric vein, located in the submucosa of a small intestinal loop. Multiple varices were secondary to portal hypertension in the context of cirrhosis. The patient died from recurrent variceal bleeding that exacerbated liver failure worsened by pneumonia and hypovolemic and septic shock.
The variceal bleeding in this patient was atypical in that it originated from venous collaterals bleeding into the small intestine rather than the more typical gastroesophageal varices observed in ASMD. With long standing liver dysfunction and gradual development of portal hypertension, intestinal varices rather than occult intestinal bleeding due to ischemia should be considered in ASMD patients presenting with either hematochezia or hematemesis.
酸性鞘磷脂酶缺乏症（ASMD，也称为尼曼-匹克病A型和B型）是一种罕见的遗传性代谢紊乱疾病。肝脏相关问题，包括肝硬化和静脉曲张出血，是慢性ASMD患者早期死亡的主要原因。由于这种溶酶体贮积症较为罕见，人们可能缺乏对患有慢性ASMD疾病的成年人有患肝硬化、门静脉高压和静脉曲张出血重大风险的认识。本病例突出了一名因慢性内脏ASMD导致肝硬化和门静脉高压的成年人反复出现静脉曲张出血的不寻常表现。
一名严重脾肿大患者在25岁时被诊断为ASMD。64岁时，他们因便血（最初诊断为缺血性结肠炎）多次住院，伴有低血压（血压91/45 mmHg）、贫血（血红蛋白8.5g/dL，参考值12 - 16；国际标准化比值1.4，参考值≤1.2）和轻度肾功能不全（肌酐1.33mg/dL，参考值0.51 - 0.95）。结肠镜检查未发现出血源。计算机断层扫描成像显示弥漫性静脉侧支循环和腹水。后续出血发作期间的血管造影显示活动性动脉性肠道出血为阴性。反复的胃肠道出血被发现源自与右髂静脉和肠系膜上静脉相连的静脉曲张簇，位于一小段肠袢的黏膜下层。多个静脉曲张是肝硬化背景下门静脉高压的继发表现。患者死于反复的静脉曲张出血，这种出血因肺炎、低血容量性和感染性休克而加重了肝功能衰竭。
该患者的静脉曲张出血具有非典型性，因为它起源于静脉侧支循环向小肠内出血，而非ASMD中更典型的食管胃静脉曲张。对于出现便血或呕血的ASMD患者，鉴于长期存在的肝功能障碍和门静脉高压的逐渐发展，应考虑肠道静脉曲张而非缺血性隐匿性肠道出血。
