Cystic fibrosis and celiac disease - multifaceted and similar

Abstract

Celiac disease and cystic fibrosis share a number of clinical manifestations. The comorbidity rate of these diseases is low: 1:200000. We present a case of a child aged 1 year and 5 months, born to a mixed-marriage parents, with concomitant cystic fibrosis and celiac disease manifesting initially with chronic diarrhea. Diagnosis of cystic fibrosis was made on the basis of changes in pulmonogram and three positive sweat tests with the malabsorption managed. Celiac disease was demonstrated through immunological tests (serological test of anti-transglutaminase antibodies of IgA class), histological tests (altered duodenal mucosa) and the therapeutic effect of a gluten-free diet. This case is the first ever reported case of a child with concomitant cystic fibrosis and celiac disease in Bulgaria. The case suggests the need for targeted screening for celiac disease in children with cystic fibrosis.

Case Report: Celiac Disease Mimicking Cystic Fibrosis

“…In conclusion, although the criteria have been generally specified, there is still no consensus as to when children with CF should be evaluated for CD (9). It might be reasonable to screen CF patients whose symptoms are resistant to standard treatment for CD.…”

Celiac Disease and Cystic Fibrosis: Challenges to Differential Diagnosis

“…14 There is no consensus in the literature about when to investigate CD in patients with CF. Genkova et al (2013) suggested investigation in all patients with CF that present the following clinical manifestations: intestinal malabsorption without improvement with standard treatment, delay in neuro-psychomotor development, co-morbidity that predisposes to autoimmune phenomena (diabetes mellitus type 1, juvenile idiopathic arthritis, autoimmune thyroiditis, Down syndrome), persistent anemia ferropriva, fi rst episode of hypoprothrombinemia or any other sign of hepatic involvement. 9 In the cases herein related, research for CD was performed due to poor response to treatment in the fi rst case, and due to the clinical history suggestive of CD in the second case.…”

“…3 Кафедра детской гастроэнтерологии, Университетская больница "Профессор Едгар Сантос", Федеральный университет штата Баия (UFBA), Бразилия. 4 Кафедра педиатрии, Медицинский факультет Баия, Федеральный университет Баия, Бразилия Кистозный фиброз и заболевание целиакия считаются клиническим проявлением в течение многих лет. Дифференциация заболеваний возникла ориентировочно в 30-х г.г.…”

“…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 syndrome 9 which may raise doubts as regards diagnosis between the two diseases. This emphasizes the importance of careful clinical observation in medical practice.…”

“…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 both 5 , and the clinical manifestations of the diseases may be similar, which contributed to the diffi culty in distinguishing between the two illnesses in the past 6 .…”