Variable | Cases from the literature | Present series | |||||||||
Reference (patient) | |||||||||||
2 (KV) | 2 (NJ) | 2 (MM) | 1 | 3 | 4 | 5 | RM | DO | ML | ||
Age at diagnosis (y)/sex | 66/F | 31/M | 36/M | 49/F | 63/F | 60/M | 75/M | 84/F | 55/F | 77/F | |
Age at onset of diarrhoea (y) | 41 | 13 | 33 | 47 | ND | 45 | 74 | 34 | 34 | 61 | |
Weight loss (kg) | 14 | 0 | 8 | 4 | 16 | 0 | 0 | No | No | 8 | |
Faecal weight (g/24 h) | 370 | 439 | 411 | 600–2000 | 550–1850 | 490–610 | 450 | 940 | 300–1800 | 500–800 | |
Faecal fat (g/24 h) (N<7) | 2 | 45 | 54 | 45 | ND | 3.2–3.9 | ND | 87 | ND | 2–5 | |
Schilling test with intrinsic factor | N | N | N | Low | N | N | N | N | Low | N | |
75SeHCAT or cholylglycine test | Low | Low | Low | Low | Low | Low | N | N | N | Low | |
Efficacy of cholestyramine | Yes | Yes | Yes | Partial | Yes | ND | Yes | No | Yes | ||
Faecal weight during fasting test (g/24 h at days 2/3) | ND | ND | ND | ND | ND | ND | ND | 400/500 | 600/950 | 480/ND | |
α1-antitrypsin clearance (ml/24 h)3-150 | ND | ND | ND | ND | ND | ND | ND | 59 | 62 | 5–40 | |
Colon histology | N | N | N | Excess of plasma cells in rectum | LC | N | LC | LC | LC | LC |
↵3-150 Normal <10 ml/24 h. ND, not described.