Högberg L, Fälth-Magnusson K, Grodzinsky E, Stenhammar L
Dept. of Paediatrics, Norrköping Hospital, Linköping University, Norrköping, Sweden.
Scand J Gastroenterol. 2003 Jan;38(1):61-5. doi: 10.1080/00365520310000456.
The genetic predisposition of coeliac disease (CD) is well known. Previous studies of first-degree relatives of coeliac patients have shown that as many as 10% have the disease. In 1981, we published a study in which all first-degree relatives of 32 index patients with CD were investigated by small-bowel biopsy. We found 2 relatives (2%) with CD. The present study is a re-investigation of all first-degree relatives of the same index patients performed 20-25 years after the first study to reveal any new cases of CD in this high-risk population.
All 120 first-degree relatives were screened for CD by means of serological markers of CD. The relatives with positive markers were submitted to small-bowel biopsy.
Eight new cases of CD were found among the relatives. Two had been investigated by small-bowel biopsy 20 years previously, when they had only minor mucosal changes not classified as CD. The other six new cases of CD were found among offspring of the index patients and were born after completion of the previous study. Thus no new case of CD was found among those relatives who had a completely normal small-bowel biopsy 20-25 years previously.
The high prevalence of CD among first-degree relatives of coeliac patients (8.3% in this study) supports the need to screen for CD in this high-risk population. Even relatives with only mild enteropathy should be followed carefully, since some may subsequently develop CD.
乳糜泻(CD)的遗传易感性已广为人知。先前对乳糜泻患者一级亲属的研究表明,多达10%的亲属患有该病。1981年,我们发表了一项研究,对32例乳糜泻索引患者的所有一级亲属进行了小肠活检。我们发现2名亲属(2%)患有乳糜泻。本研究是在首次研究20 - 25年后,对同一批索引患者的所有一级亲属进行的重新调查,以揭示这一高危人群中任何新的乳糜泻病例。
通过乳糜泻的血清学标志物对所有120名一级亲属进行乳糜泻筛查。标志物呈阳性的亲属接受小肠活检。
在亲属中发现了8例新的乳糜泻病例。其中2例在20年前曾接受过小肠活检,当时他们只有轻微的黏膜改变,未被归类为乳糜泻。另外6例新的乳糜泻病例在索引患者的后代中发现,且是在先前研究完成后出生的。因此,在20 - 25年前小肠活检完全正常的亲属中未发现新的乳糜泻病例。
乳糜泻患者一级亲属中乳糜泻的高患病率(本研究中为8.3%)支持在这一高危人群中进行乳糜泻筛查的必要性。即使是只有轻度小肠病的亲属也应仔细随访,因为有些人随后可能会发展为乳糜泻。