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Simultaneous presentation of musculoskeletal and gastrointestinal symptoms in HLA-B27 positive and anti-TTG negative patient with typical celiac disease histology

Introduction: in recent years a number of studies showed a connection between intestinal dysbiosis and various immunological diseases, hence it is not coincidence gastrointestinal abnormalities can often be found in patients with rheumatic diseases and musculoskeletal symptoms are not rare in variety of digestive system disorders. Nevertheless, when both musculoskeletal and gastrointestinal symptoms presents simultaneously at the beginning of the disease, it might be difficult to distinguish the primary disorder. Objectives:to present a patient with simultaneous presentation of characteristic gastrointestinal and musculoskeletal symptoms. Methods: case report. Informed consent to publish has been obtained from both the patient and parent. Results: a thirteen year old boy with medical history of infantile colic and a brother with HLA B27 positive juvenile spondyloarthritis was admitted to our department due to persistent inflammatory lumbosacral pain, Achiles enthesitis, and abdominal discomfort. During the six months period prior to the admission he had six episodes of fever, cough, abdominal pain and aphthae lasting for few days. Acute surgical disease was excluded on several occasions. Chest radiograph, throat and nose cultures showed no signs of infection. During the last few episodes he developed swelling of the right talocrural joint which resolved after short course of NSAID. Later, severe pain in sacroiliac (SI) joints with morning stiffness emerged, while his stools became loose and frothy. Abdominal ultrasound showed ileocecal mesenteric lymphadenitis and dilated intestinal loops filled with dense liquid content. Upon the first examination by paediatric rheumatologist he had palpatory periumbilical pain as well as tenderness of SI joints and Achiles entheses. His height and weight were below the 5th centile while estimated bone age was 12. ANA, ANCA and RF were negative. There was no sign of uveitis on ophthalmologic examination. HLA typing was positive for B27. Radiographic and magnetic resonance imaging of SI joints and spine showed no signs of inflammation. Immunoglobulin A anti-tissue transglutaminase antibody (IgA TTG) was negative while serum IgA levels were normal. No pathological agents were isolated from stool. Several faecal occult blood tests were negative and faecal calprotectin levels were normal. Endoscopy of upper and lower gastrointestinal tract revealed hiatal hernia, oesophagitis, gastritis and duodenitis. Histologic evaluation of several duodenal biopsy specimens displayed typical features of celiac disease. A month after initiation of gluten free diet and NSAID’s the improvement of all symptoms was noticed. Conclusion:although they differ in HLA predispositions, both JIA and CD are associated with 4q27 locus, which encodes IL-2 and IL-12 cytokines important for activation and regulation of immune system, and both are linked with a functional single nucleotide polymorphism in the PTPN22 gene (1858C>T). Intriguingly, lymphocyte cytotoxicity in the intestinal mucosa is abnormally increased in both entities, suggesting some luminal, possibly a nutritional factor, may be involved. This agent is well established in CD, but number of cases, including presented, exhibited beneficial role of gluten free diet in arthritis patients as well. Our patient clearly met ILAR criteria for ErA and had typical histological features of CD, but without elevated anti-TTG levels. Since his musculoskeletal symptoms could also be explained as a part of extra-intestinal CD manifestations, the real distinction of underlying disorders was challenging. Therefore it is reasonable to conclude both CD and certain subtypes of JIA have multiple shared mechanisms making them hard to separate in given circumstances.

Celiac disease, Spondyloarthritis, HLA-B27

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