INTRODUCTION: 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.
CASE PRESENTATION: 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.
CONCLUSIONS: 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.