Published online Dec 16, 2025. doi: 10.4253/wjge.v17.i12.112344
Revised: September 30, 2025
Accepted: November 11, 2025
Published online: December 16, 2025
Processing time: 144 Days and 15.4 Hours
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 (SLCO2A1) (CEAS) is a rare autosomal recessive hereditary disease characterized by anemia, hypoproteinemia, abdominal pain, diarrhea, and multiple shallow ulcers in the small intestine. Genetic analysis for SLCO2A1 mutations has identified more than 10 variant types, including the mostly re
Herein, we described a 33-year-old female patient who was admitted for anemia, edema, and a positive fecal occult blood test, unaccompanied by abdominal pain and diarrhea. She was diagnosed with CEAS due to compound heterozygous variants, c.940+1G>cA (splice-5) and c.1658T>A (p.Ile553Asn) in SLCO2A1, which had not been previously reported. Importantly, we reviewed 132 reported CEAS patients, which showed that anemia (87.3%) and hypoproteinemia (81%) were the most common symptoms. Nearly 25.8% of patients only had a positive result of fecal occult blood, without any symptoms of gastrointestinal bleeding.
In conclusion, fecal tests should be repeated in patients with anemia and edema to find clues for chronic enteropathy, including the rare cause-CEAS.
Core Tip: We present a 33-year-old female patient who was admitted for anemia, edema, and a positive fecal occult blood test. She was diagnosed with chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 (SLCO2A1) due to heterozygous mutations, c.1658T>A (p.Ile553Asn) and c.940+1G>A (splice-5) in SLCO2A1, which had not been previously reported. Chronic enteropathy associated with SLCO2A1 should be considered in patients with anemia and edema to avoid inappropriate therapies.