Uncovering the protean clinical manifestations

The advent of highly accu­rate serological tests (such as endomysial and transglutaminase 2 autoantibody assays) has enabled us to demonstrate that celiac disease extends beyond gastrointestinal tract.

The onset of celiac disease requires ingestion of dietary gluten present in wheat, rye and barley and the genetic predisposition (HLA‑DQ2 or HLA‑DQ8) along with yet unidentified components as depicted by the pasta cooking pot above. Over the years, we have shown that the resulting autoimmune response leads to a wide constellation of symptoms that may manifest in the gastrointestinal tract but also in the skin (dermatitis herpetiformis), liver (hepatitis, liver failure), musculoskeletal (arthritis, osteoporosis, fractures), reproductive (infertility, miscarriages) and nervous system (neuropathy, gluten ataxia) among others. Moreover, we have contributed to the understanding that celiac disease is common in certain risk groups such as first-degree relatives and patients suffering from autoimmune diseases like type 1 diabetes mellitus and autoimmune thyroid disorders. In these cases, celiac disease is often clinically silent and thus can be identified only by active case finding by screening.

This research line will continue and we aim at the identification of environmental, genetic or downstream biomedical factors that predispose to distinct disease phenotypes and disease outcomes at the individual level. By applying this information, targeted recognition of specific disease risks can become a reality. These ongoing projects are funded by TEKES SalWe-coordinated SHOK (Strategic Centres for Science, Technology and Innovation) program on Personalized Diagnostics and Care (“Get It Done”) (linkki http://www.salwe.fi/get-it-done.html) and Academy of Finland program “Personalized health – from genes to society” (linkki http://www.aka.fi/en/research-and-science-policy/academy-programmes/current-programmes/phealth/).

Our selected publications:

Heikkilä K, Pearce J, Mäki M, Kaukinen K. Coeliac disease and the risk of bone fractures: a systematic review and meta-analysis. J Clin Endocr Metab 2015;100:25-34.

Ilus T, Kaukinen K, Virta LJ, Pukkala E, Collin P. Incidence of malignancies in diagnosed celiac disease patients: a population-based estimate. Am J Gastroenterol 2014;104:1471-1477.

Korpimäki S, Kaukinen K, Collin P, Haapala AM, Holm P, Laurila K, Kurppa K Saavalainen P, Haimila K, Partanen J, Mäki M and Lähdeaho ML. Gluten-sensitive hypertransaminasemia in celiac disease: an infrequent and often subclinical finding. Am J Gastroenterol 2011;106:1689-96.

Peltola M, Kaukinen K, Dastidar P, Haimila K, Haapala AM, Mäki M, Keränen T, Peltola J. Hippocampal sclerosis in refractory temporal lobe epilepsy is associated with gluten sensitivity. J Neurol Neurosurg & Psychiatr 2009;80:626-30.

Kaukinen K, Halme L, Collin P, Färkkilä M, Mäki M, Vehmanen P, Partanen J, Höckerstedt K. Celiac disease in patients with severe liver disease. Gluten-free diet may reverse hepatic failure. Gastroenterology 2002;122:881-8.

Collin P, Syrjänen J, Partanen J, Pasternack A, Kaukinen K, Mustonen J. Coeliac disease and HLA DQ in patients with IgA nephropathy. Am J Gastroenterol 2002;97:2572-6.

Kaukinen K, Salmi J, Lahtela J, Siljamäki-Ojansuu U, Koivisto A-M, Oksa H, Collin P. No effect of gluten-free diet on the metabolic control type I diabetes in patients with diabetes and celiac disease. Retrospective and controlled prospective survey. Diabetes Care 1999; 22: 1747-8

Iltanen S, Collin P, Korpela M, Holm K, Partanen J, Polvi A, Mäki M. Celiac disease and markers of celiac disease latency in patients with primary Sjögren’s syndrome. Am J Gastroenterol 1999;94:1042-6.

Luostarinen L, Pirttilä T, Collin P. Coeliac disease presenting with neurological disorders. Eur Neurol 1999;42:132-5.

Collin P, Pukkala E, Reunala T. Malignancy and survival in dermatitis herpetiformis: a comparison with coeliac disease. Gut 1996;38:528-30.

Collin P, Vilska S, Heinonen PK, Hällström O, Pikkarainen P. Infertility and coeliac disease. Gut 1996;39:382-4.

Collin P, Reunala T, Pukkala E, Laippala P, Keyriläinen O, Pasternack A. Coeliac disease–associated disorders and survival. Gut 1994;35:1215-8.

Collin P, Pirttilä T, Nurmikko T, Somer H, Erilä T, Keyriläinen O. Celiac disease, brain atrophy, and dementia. Neurology 1991;41:372-5.

Aine L, Mäki M, Collin P, Keyriläinen O. Dental enamel defects in celiac disease. J Oral Pathol Med 1990;19:241-5.

Reunala T. Gluten-free diet in dermatitis herpetiformis. II. Morphological and immunological findings in the skin and small intestine of 12 patients and matched controls. Br J Dermatol 1978;98:69-78