Table 1

IBD phenotype in patients with NPC

Patient IDSexAge at diagnosis of IBD in yearsDiagnosisSymptoms of IBD/EIM/examination findingsDisease location, disease behaviour, growth delay*Treatment for IBD: enteral nutrition, anti-inflammatory/immunosuppressive drugsSurgery
1F9.3CDDiarrhoea, abdominal pain, rectal bleeding, weight loss, perianal skin tags, arthritisL2L4a, B1p
G1
CS, AB, ASA, AZA, IFX (6-weekly)None
2M32.2IBDUDiarrhoea, rectal bleeding, weight lossNo detailsASANone
3F11CDDiarrhoea, pain on defecation, fever, labial abscess, perianal skin tagsL2, B1pCS, AB, ASA, AZA†None
4F6.2CDDiarrhoea, perianal skin tags and fissureL2, B1pNo therapy at presentNone
5F10.3CDDiarrhoea, anogenital ulcers, perianal skin tags and fissuresL3L4ab, B1pCS, ASA, AZA, IFX†None
6F7.5CDDiarrhoea, rectal bleeding, pain on defecation, perianal skin tags and fissures, perianal and rectovaginal fistulae; later, cutaneous fistulae and abscesses around stomasL2, B3pCS, AB, NUT, ASA, IFX†End colostomy with distal mucus fistula (8 years)
7F6.5CDDiarrhoea, perianal skin tagsPerianal diseaseNo therapy at presentNone
8F12.4CDDiarrhoea, rectal bleeding, pain on defecation, perianal fissures, anorectal fistula, arthritisL2, B1pCS, AB, NUT, ASA, IFXOperation of fissures
9M3.6IBDUDiarrhoea, iron deficiency anaemiaE4
G1
NUT, AZANone
10F7CDDiarrhoea, pain on defecation, perianal skin tags and fistulaPerianal disease
11F15CDDiarrhoea, abdominal pain, rectal bleeding, weight loss, perianal skin tags and fistulae, arthritis, skin lesionsL2, B1p
G1
CS, AB, NUT, AZA, IFXColectomy and ileostomy (16 years)
12M30.4CDDiarrhoea, skin lesionsL2, B1CS, ASA, IFXNone
  • 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.