Celiac Disease and Cystic Fibrosis: Challenges to Diff erential Diagnosis

Abstract

Cystic fi brosis (CF) is a chronic and progressive autosomal recessive genetic disease that affects various organs and systems of the body1. According to the Cystic Fibrosis Foundation, approximately 70 thousand persons in the world have CF.2 In Brazil, the most recent data of the Brazilian Register of Cystic Fibrosis (REBRAFC), accounted for approximately 4 thousand patients.3 Celiac disease (CD) is a systemic disease mediated by permanent susceptibility to gluten, triggered by autoimmune mechanisms in genetically predisposed individuals.1 The prevalence of CD is estimated at around 1% of the population worldwide.4 CF and CD were recognized as a single clinical entity for many years, since the intestinal malabsorption syndrome occurs in both5, and the clinical manifestations of the diseases may be similar, which contributed to the diffi culty in distinguishing between the two illnesses in the past6. At present there are specifi c diagnostic methods for each disease. According to the Guidelines of the European Society for Paediatric Gastroenterology, hepatology and Nutrition (ESPGHAN, 2012), in patients with gluten-dependent symptoms, the diagnosis of CD may be confi rmed by elevation in the levels of antibodies specifi c for CD and the presence of alleles HLA-DQ2/DQ8, which may eliminate the need to perform intestinal biopsy in these cases. Histopathological exam must be 142 A. Ramos et al Folia Medica I 2016 I Vol. 58 I No. 2 I Article 10 performed when the above mentioned studies are not available.7 As criteria for the diagnosis of CF, the Cystic Fibrosis Foundation Consensus Panel established the presence of a phenotypical clinical condition or family history of CF, or positive newborn screening associated with the elevation of chloride concentration in sweat or identifi cation of two mutations of CFTR; or in vivo demonstration of nasal epithelial ion transport abnormalities.8 As reported by Genkova (2013), the sweat test may be false positive in the presence of the malabsorption syndrome9 which may raise doubts as regards diagnosis between the two diseases. This emphasizes the importance of careful clinical observation in medical practice. The possibility of diagnostic confusion between these diseases may delay the adequate treatment of each disease. This report describes two patients with initial diagnosis of cystic fi brosis who received diagnostic confi rmation of CD during follow-up, therefore the diagnosis of CF was excluded. The free and informed consent of the persons responsible for the patients was obtained in the preparation for this study.