Coagulopathy as initial manifestation of concomitant celiac disease and cystic fibrosis: a case report
University Children's Hospital, Department for Gastroenterology and Hepatology, Skopje, Former Yugoslav Republic of Macedonia
Journal of Medical Case Reports 2011, 5:116 doi:10.1186/1752-1947-5-116Published: 24 March 2011
Celiac disease and cystic fibrosis have many common manifestations, such as malabsorption, steatorrhea and growth failure, and were for many years recognized as one clinical entity. Since their recognition as two separate diseases, their co-existence in a patient has been described sporadically; around 20 cases have been described in the literature. Taking into consideration the incidences of the two diseases, the chance of them occurring together is one in 2,000,000 in the general population.
We describe the case of a five-year-old boy of Turkish ethnicity with both celiac disease and cystic fibrosis, who presented initially with a skin hemorrhage. The diagnosis of celiac disease was made with a positive serum anti-tissue transglutaminase antibody test and the presence of HLA-DQ2 heterodimer, and confirmed on histology with small intestinal villous atrophy. A positive sweat test confirmed the diagnosis of associated cystic fibrosis.
To the best of our knowledge there has been no previous report of this rare presentation of associated celiac disease and cystic fibrosis.
The clinical significance of this case is the consideration of malabsorption with both celiac disease and cystic fibrosis in patients who present with unexplained coagulopathy.