source: American Journal of Gastroenterology
Sofia Novak, MD; Andrea Tieng, MD; Kostas Sideridis, DO; Simmy Bank, MD
Methods: 30 year old Indian male with no known prior medical history was admitted for total colectomy with ileorectal anastomosis for FAP syndrome. His father was diagnosed with colon cancer (ca) at the age of 52, prompting a colonoscopy in his brother that demonstrated multiple (>50) colonic polyps. The patient’s colonoscopy found over 100 polyps ranging from 2 mm to 3 cm, tubular with tubular-villous adenomas on pathology. A presumed diagnosis of attenuated FAP was made.
Results: Genetic testing for FAP was positive while mismatch repair gene was negative. Post surgery, the patient had nausea and abdominal pain. An upper endoscopy demonstrated esophagitis, gastric erosions, and clean-based duodenal ulcers, with subtotal villous blunting on biopsy. Celiac markers were found to be positive: anti-tissue transglutaminase antibody (AB)(TTG IgA) 65–100 units, anti-endomysial IgA AB positive (1:20). Antigliaddin AB IgG/IgA were negative. Patient was found to have microcytic anemia (H/H 11/36 with MCV 75) due to iron deficiency (iron 15, iron saturation 4%) and diarrhea (nonbloody, loose, 5–6 BM/day). HLA DQ8 was detected while HLA DQ2 was not present. The patient was instructed to go on a gluten-free diet. A repeat upper endoscopy demonstrated an atrophic duodenum with preserved villi architecture and focal mild intraepithelial lymphocytic infiltrate. On follow-up, the patient had improvement of diarrhea (2 BM/day).
Conclusion: This case presents a patient with attenuated FAP syndrome and celiac sprue, both known for their strong genetic predisposition. There have been no known documented cases reported from an extensive literature search. Celiac disease (CD) is an under diagnosed problem that has a 95% genetic predisposition. It can be associated with other autoimmune conditions. 95% of patients with CD have a particular HLA class II genotype – encoded by chromosome 6: 6p21.3. The disease is genetically complex. A recent study (1) indicated that CD is more prevalent in females and has a strong paternal inheritance of predisposing haplotypes. It also found that HLA negative patients were more likely to be male. FAP is an autosomal dominant inherited disease that has a strong association with the APC gene located on chromosome 5, between p21 and p22. Attenuated FAP is characterized by a significant risk for colon ca, but fewer polyps (avg. 30) than classic FAP, more proximally located polyps, and diagnosis of colon ca at a later age; management may be substantially different. (2) It would be interesting to know if both diseases were transmitted through paternal transmission and if there is a role of disease accumulation or co-transmission. The immunologic bases for the co-conditions are not evident and this could represent a random occurrence.
Albany Medical College
10.1111/j.1572-0241.2008.02139_7.x presentation number: