IBD phenotype in patients with NPC
| Patient ID | Sex | Age at diagnosis of IBD in years | Diagnosis | Symptoms of IBD/EIM/examination findings | Disease location, disease behaviour, growth delay* | Treatment for IBD: enteral nutrition, anti-inflammatory/immunosuppressive drugs | Surgery |
|---|---|---|---|---|---|---|---|
| 1 | F | 9.3 | CD | Diarrhoea, abdominal pain, rectal bleeding, weight loss, perianal skin tags, arthritis | L2L4a, B1p G1 | CS, AB, ASA, AZA, IFX (6-weekly) | None |
| 2 | M | 32.2 | IBDU | Diarrhoea, rectal bleeding, weight loss | No details | ASA | None |
| 3 | F | 11 | CD | Diarrhoea, pain on defecation, fever, labial abscess, perianal skin tags | L2, B1p | CS, AB, ASA, AZA† | None |
| 4 | F | 6.2 | CD | Diarrhoea, perianal skin tags and fissure | L2, B1p | No therapy at present | None |
| 5 | F | 10.3 | CD | Diarrhoea, anogenital ulcers, perianal skin tags and fissures | L3L4ab, B1p | CS, ASA, AZA, IFX† | None |
| 6 | F | 7.5 | CD | Diarrhoea, rectal bleeding, pain on defecation, perianal skin tags and fissures, perianal and rectovaginal fistulae; later, cutaneous fistulae and abscesses around stomas | L2, B3p | CS, AB, NUT, ASA, IFX† | End colostomy with distal mucus fistula (8 years) |
| 7 | F | 6.5 | CD | Diarrhoea, perianal skin tags | Perianal disease | No therapy at present | None |
| 8 | F | 12.4 | CD | Diarrhoea, rectal bleeding, pain on defecation, perianal fissures, anorectal fistula, arthritis | L2, B1p | CS, AB, NUT, ASA, IFX | Operation of fissures |
| 9 | M | 3.6 | IBDU | Diarrhoea, iron deficiency anaemia | E4 G1 | NUT, AZA | None |
| 10 | F | 7 | CD | Diarrhoea, pain on defecation, perianal skin tags and fistula | Perianal disease | ||
| 11 | F | 15 | CD | Diarrhoea, abdominal pain, rectal bleeding, weight loss, perianal skin tags and fistulae, arthritis, skin lesions | L2, B1p G1 | CS, AB, NUT, AZA, IFX | Colectomy and ileostomy (16 years) |
| 12 | M | 30.4 | CD | Diarrhoea, skin lesions | L2, B1 | CS, ASA, IFX | None |
Patients 6 and 10 have been previously reported in the literature.4 ,31 Additional patient information based on literature only is summarised in online supplementary table S1.
*According to Paris classification.32
†Medication at time of death.
AB, oral or intravenous antibiotics given for treatment of colitis, bowel decontamination, fistula treatment; ASA, 5-aminosalicylic acid; AZA, azathioprine; CD, Crohn's disease, CS, corticosteroids; EIM, extraintestinal manifestations; F, female; IBDU, IBD unclassified; IFX, infliximab; M, male; NPC, Niemann–Pick disease type C; NUT, polymeric/elemental diet.