OBJECTIVES: First-degree relatives of patients with celiac disease are at h
igh risk for developing the disease themselves. Detection of serum antibodi
es and intestinal permeability tests have been useful to identify candidate
s for intestinal biopsies. Recently it was demonstrated that abnormal sucro
se permeability is a very sensitive marker of active disease. Our objective
s in this prospective study were (1) to assess the screening value of perme
ability tests, and (2) to compare the usefulness of these markers with that
of the celiac disease-related serology in screening for celiac disease in
a cohort of first-degree relatives of well-known patients.
METHODS: We performed sugar tests in 66 first-degree relatives of probands.
Subjects ingested 450 ml of a solution containing sucrose (100 g), lactulo
se (5 g), and mannitol (2 g). Subsequently, a complete overnight urine coll
ection was obtained. Measurement of sugars was performed by highperformance
liquid chromatography. All relatives were evaluated for antigliadin (type
IgA and IgG) and endomysial antibodies and subjects positive for any test u
nderwent intestinal biopsy.
RESULTS: Twelve relatives were diagnosed as having small intestinal mucosal
atrophy. Increased sucrose permeability was detected in 9 (75%) of these p
atients. Four false-positive determinations were found but all had gastric
erosions, which is known to increase sucrose permeability independently of
duodenal damage. Increased lactulose/mannitol ratios were observed in all n
ew celiac patients. An additional nine relatives had positive results; howe
ver, four of them did not accept intestinal biopsy and the remaining five d
id not seem to have histological evidence of disease. Endomysial antibodies
were detected in 11 of 12 patients and no false-positive cases were observ
ed. Antigliadin antibodies were 75% sensitive and 88% specific.
CONCLUSIONS: Our study demonstrated that screening using the endomysial ant
ibody test is highly sensitive and specific for detecting celiac disease; h
owever, almost 10% can be missed. The addition of lactulose/mannitol permea
bility testing to the screening protocol allowed us to detect all relatives
who actually presented with evidence of gluten sensitivity. Sucrose permea
bility exhibited a lower sensitivity; however, it did detect other endoscop
ically visible lesions. (Am J Gastroenterol 1999;94:3547-3552. (C) 1999 by
Am. Coll. of Gastroenterology).