Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea

Table 1 Demographic data of familial inflammatory bowel disease and sporadic inflammatory bowel disease

Phenotype	Familial CD (n = 17)	Sporadic CD (n = 51)	P value	Familial UC (n = 27)	Sporadic UC (n = 81)	P value
Sex			> 0.999			> 0.999
Male	14 (82.4)	42 (82.4)		15 (55.6)	45 (55.6)
Female	3 (17.6)	9 (17.6)		12 (44.4)	36 (44.4)
Age at diagnosis	28.2 ± 10.3	29.2 ± 10.5	0.742	36.2 ± 14.7	36.4 ± 12.8	0.951
≤ 16 yr (A1)	0 (0)	0 (0)	0.849	0 (0)	0 (0)	> 0.999
17-40 yr (A2)	14 (82.4)	43 (84.3)		13 (48.1)	39 (48.1)
> 40 yr (A3)	3 (17.6)	8 (15.7)		14 (51.9)	42 (51.9)
Age at symptom onset, yr	22.6 ± 9.5	23.5 ± 9.3	0.438	36.2 ± 14.5	36.7 ± 12.7	0.710
Main symptom at diagnosis
Abdominal pain	10 (58.8)	32 (62.7)	0.773	5 (18.5)	30 (37.0)	0.098
Diarrhea	5 (29.4)	16 (31.4)	0.880	11 (40.7)	22 (27.2)	0.232
Weight loss	0 (0.0)	2 (3.9)	> 0.999	0 (0.0)	0 (0.0)	> 0.999
Fever	0 (0.0)	1 (2.0)	> 0.999	0 (0.0)	0 (0.0)	> 0.999
Abdominal mass	0 (0.0)	0 (0.0)	> 0.999	0 (0.0)	0 (0.0)	> 0.999
Hematochezia	2 (11.8)	9 (17.6)	0.718	21 (77.8)	66 (81.5)	0.780
EIM	0	3		10	19
Somatitis	0 (0.0)	0 (0.0)	> 0.999	0 (0.0)	2 (2.5)	0.061
Arthritis and arthralgia	0 (0.0)	2 (4.2)	> 0.999	1 (3.7)	8 (9.9)	0.445
Erythema nodosum	0 (0.0)	1 (2.1)	> 0.999	4 (14.8)	5 (6.2)	0.223
Episcleritis	0 (0.0)	0 (0.0)	> 0.999	5 (18.5)	4 (4.9)	0.042

Data are presented as number (percentage) or mean ± SD. CD: Crohn’s disease; UC: Ulcerative colitis; EIM: Extraintestinal manifestation.

Table 2 Comparison of location/extent and behavior of disease between familial and sporadic inflammatory bowel disease using the Montreal classification n (%)

Type of IBD	Familial CD (n = 17)	Sporadic CD (n = 51)	P value	Familial UC (n = 27)	Sporadic UC (n = 81)	P value
Location/extent1
1	3 (17.6)	11 (21.6)	> 0.999	11 (40.7)	28 (34.6)	0.645
2	2 (11.8)	9 (17.6)	0.718	15 (55.5)	47 (58.0)	0.826
3	12 (70.6)	31 (60.8)	0.568	1 (3.8)	6 (7.4)	0.677
4	0 (0.0)	0 (0.0)	> 0.999
CD behavior2			0.668
1	9 (52.9)	33 (64.7)	0.391
2	3 (17.6)	8 (15.7)	> 0.999
3	5 (29.5)	10 (19.6)	0.504
Perianal fistula	4 (23.5)	12 (23.5)	> 0.999

¹CD location: 1 = L1 (ileum), 2 = L2 (colon), 3 = L3 (ileocolon), 4 = L4 (upper intestine); Extension of UC: 1 = E1 (proctitis), 2 = E2 (left-sided colitis), 3 = E3 (pancolitis);

²CD behavior: 1 = B1 (nonstricturing, nonpenetrating, inflammatory), 2 = B2 (stricturing), 3 = B3(penetrating). IBD: Inflammatory bowel disease; CD: Crohn’s disease; UC: Ulcerative colitis.

Table 3 Comparison of clinical characteristics between familial and sporadic inflammatory bowel disease n (%)

	Familial CD (n = 17)	Sporadic CD (n = 51)	P value	Familial UC (n = 27)	Sporadic UC (n = 81)	P value
Disease activity (at diagnosis)	CDAI			Mayo score
Mean ± SD	120.5 ± 68.2	107.8 ± 82.1	0.207	3.6 ± 2.0	3.7 ± 1.8	0.673
< 150	11 (64.7)	36 (70.6)	0.761	0-2, 9 (33.3)	18 (22.2)	0.428
150 ≤ and < 220	4 (23.5)	8 (15.7)		3-5, 14 (51.9)	52 (64.2)
≥ 220	2 (11.8)	7 (13.7)		6-12, 4 (14.8)	11 (13.6)
No. of hospitalizations			0.175			0.794
0	9 (52.9)	35 (68.6)		25 (92.6)	73 (90.1)
1-2	6 (35.2)	14 (27.5)		1 (3.7)	7 (8.7)
≥ 3	2 (11.7)	2 (3.9)		1 (3.7)	1 (1.2)
No. of relapses			0.342			0.333
0	13 (76.5)	44 (86.3)		22	72
1-2	4 (23.5)	7 (13.7)		5	9
≥ 3	0 (0.0)	0 (0.0)		0	0
Relapse duration after diagnosis, mo	49.3 ± 65.5	38.9 ± 44.5	0.907	58.2 ± 102.2	21.3 ± 20.5	0.898
Follow-up duration after diagnosis, mo	84 (24-312)	36 (8-240)	0.008	96 (12-240)	60 (12-85)	0.170

Ulcerative colitis (UC) relapse was defined as a partial Mayo score ≥ 4 or surgery for disease aggravation[12]. Crohn’s disease (CD) relapse was defined as a Crohn’s disease activity index (CDAI) score ≥ 250, a CDAI score 150 ≤ CDAI score < 250 with a 75 point increase above the initial value during three consecutive weeks, or surgery for progressed Crohn’s disease, aside from perianal surgery[13].

Table 4 Comparison of number of bowel resection surgeries between familial and sporadic inflammatory bowel disease n (%)

Phenotype	Familial CD (n = 17)	Sporadic CD (n = 51)	P value	Familial UC (n = 27)	Sporadic UC (n = 81)	P value
Number of surgeries			0.194			0.759
0	13 (76.5)	44 (86.3)		27 (100)	79 (97.5)
1	3 (17.6)	7 (13.7)		0 (0.0)	2 (2.5)
2	1 (5.9)	0 (0.0)		0 (0.0)	0 (0.0)

CD: Crohn's Disease; UC: Ulcerative colitis.

Table 5 Medication types and adverse events in patients with familial and sporadic inflammatory bowel disease n (%)

	Familial CD (n = 17)	Sporadic CD (n = 51)	P value	Familial UC (n = 27)	Sporadic UC (n = 81)	P value
5-ASA	16 (94.1)	50 (98.0)	> 0.999	17 (63.0)	64 (79.0)	0.124
Steroid	7 (41.2)	15 (29.4)	0.551	5 (18.5)	18 (22.2)	0.684
Thiopurines	7 (41.2)	28 (54.9)	0.406	5 (18.5)	11 (13.6)	0.540
Anti-TNF antibodies	3 (17.6)	0 (0.0)	0.014	0 (0.0)	0 (0.0)	-
Suppository
5-ASA	1 (5.9)	0	0.250	3 (11.1)	1 (1.2)	0.047
Steroid	0	2 (3.9)	> 0.999	18 (66.7)	35 (43.2)	0.035
AEs by thiopurine	4 (23.5)	8 (15.7)	0.477	1 (3.7)	6 (7.4)	0.677
Leukopenia	4 (23.5)	7 (13.7)	0.448	1 (3.7)	4 (4.9)	> 0.999
Nausea	0	1 (2.0)	> 0.999	0 (0.0)	0 (0.0)	> 0.999
Arthralgia	0	0	> 0.999	0 (0.0)	1 (1.2)	> 0.999
Skin lesion	0	0	> 0.999	0 (0.0)	1 (1.2)	> 0.999
Pancreatitis	0	0	> 0.999	0	0	> 0.999
Elevation of liver enzyme	0	0	> 0.999	0	0	> 0.999

UC: Ulcerative colitis; CD: Crohn’s disease; ASA: Aminosalicylates; TNF: Tumor necrosis factor; AE: Adverse events.