annals 1-2.qxd - Centrum Zdrowia Dziecka

Annals of Diagnostic Paediatric Pathology 2006, 10(1–2):7–12
© Copyright by Polish Paediatric Pathology Society Annals of
Pathogenesis and clinical manifestation of celiac disease:
analysis of atypical symptoms
Bo¿ena Cukrowska 1 , Barbara Burda-Muszyñska 2 , Maria Zegad³o-Mylik 1 , Jerzy Socha 2
Diagnostic
Paediatric
Pathology
1
Department of Pathology
2
Department of Gastrology, Hepatology and Immunology
The Children’s Memorial Health Institute
Warsaw, Poland
Abstract
Celiac disease is defined as enteropathy occurring after ingestion of gluten from cereals in genetically
predisposed individuals. Recently, after introduction of sensitive and specific screening tests, the increase
in prevalence of celiac disease has been observed. The celiac disease incidence of 1:100 – 1:300 is similar
in Europe, United States, Australia and Asia. Still, a lot of celiac patients is undiagnosed. Difficulties in
diagnosis are caused by the changes of clinical features of the disease into atypical and the occurrence of
illness in older children and adults. In this review pathogenetic factors playing role in atypical celiac disease
have been shown, intestinal and non-intestinal symptoms of disease, and risk groups, in which screening
tests should be done, have been presented as well.
Key words: celiac disease, gluten, screening tests, atypical symptoms, risk groups
Introduction
Celiac disease (CD) is an immune-mediated enteropathy caused
by a permanent sensitivity to gluten, i.e. a protein present
in cereals, occurring in genetically susceptible individuals,
in whom ingestion of gluten induces typical changes in
small intestine mucosa [16]. The development of reliable serological
screening tests has dramatically increased our awareness
of CD as a common condition. The prevalence of CD
in a healthy population of Europe, United States, Australia
and Asia varies between 1:100 – 1:300 [17, 24, 36, 37]. In
Poland CD screening tests in healthy population have not been
done, yet. Due to the fact that the prevalence of CD in Europe
is so high, it is expected that even about 380 thousand
of CD patients live in Polish country.
CD has extremely changed since the moment Dutch
physician Willem Dicke had described the clinical aspects of
the disease [13]. Nowadays, so called classical type of CD
with chronic diarrhea, abdominal distension, poor weight gain,
starting under 2 years of age, occurs rather rare. CD appears
in each age after the introduction of gluten to the diet, and
in many older patients presents atypical non-gastrointestinal
symptoms or has a silent form with minimal or no clinical
symptoms [10]. Gastrointestinal symptoms of CD represent
the tip of the celiac iceberg presented by Logan [32]. Because
of atypical manifestations, many patients with CD remain
undiagnosed or are treated symptomatically. In adults, CD is
diagnosed on average over 10 years after the first symptoms
[21]. The lack of proper treatment, i. e. a strict gluten free diet
(GFD), increases the risk of life-threatening complications that
are difficult to manage, such as cancers and malignant lymphomas
[7]. There is also strong evidence that in unrecognized
CD patients the frequency of other autoimmune diseases
is higher than in general population [58].
Pathogenesis
CD is a highly genetically determined disease with the major
genetic factor being the expression of specific HLA class
II antigens. About 90–95% of CD patients express HLA-
-DQ2 molecule, the rest of them are HLA-DQ8-positive
[33]. These HLA-DQ receptors have the capacity to bind the
Address for correspondence
Bo¿ena Cukrowska, MD, PhD, DrSc
Zak³ad Patologii
Instytut „Pomnik-Centrum Zdrowia Dziecka”
Aleja Dzieci Polskich 20
04-734 Warszawa
E-mail: ptpd@czd.waw.pl