Differential Diagnosis between Ulcerative Colitis and Clostridium Difficile-Associated Disease in a Patient with Autoimmune Polyglandular Syndrome Type 1

Aim: to demonstrate the clinical picture and the tactics of differential diagnosis between ulcerative colitis and Clostridium difficile-associated disease in a patient with APS-1, as well as to describe the tactics of managing such patients.

Key findings. A 25-year-old patient with autoimmune polyglandular syndrome type 1 (APS-1) complained of loose stools up to 10 times a day with blood admixture, rapidly growing weakness and a weight loss of 5 kg per week. When examined on the day of admission, surgical pathology was excluded. Further differential diagnostics between Clostridium difficile-associated disease and ulcerative colitis was carried out, with the possibility of combining these diseases being not excluded. The examination confirmed Clostridium difficile-associated disease, while the diagnosis of ulcerative colitis needed further verification. APS-1 is often combined with other diseases and is likely to be pathogenetically related with them; however, the mechanisms of such interrelations still remain unknown. Previous research has reported the relationship between APS-1 and clostridial infection. The combination of ulcerative colitis with APS-1 has not thus far been described.

Conclusion. A specific feature of the described clinical case consists in the development of severe Clostridium difficile-associated disease against the background of autoimmune polyglandular syndrome type 1. The management of patients with APS-1 should take into account the possibility of developing a clostridial infection, since these diseases can co-occur. When treating a patient with APS-1 in non-endocrine hospital units, consultation with an endocrinologist is necessary.

1. Mikhina M.S., Molashenko N.V., Troshina E.A., Orlova E.M., Sozaeva L.S., Eystein S. Husebye et al. Features of the course of autoimmune polyglandular syndrome type 1. Clin Med. 2015;93(8):55–9 (In Rus.)

2. Orlova E.M. Autoimmune polyendocrine syndrome type 1: clinical variants, genetic fundamentals, immunological markers, treatment and prognosis. Thesis for the degree of Dr. Sci. (Med.). Moscow, 2017 (In Rus.)

3. Whitaker J., Landing B.H., Esselborn V.M., Williams R.R. The syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis. J Endocrinol. 1956;16:1374–87.

4. Kluger N., Jokinen M., Krohn K., Ranki A. Gastrointestinal Manifestations in APECED Syndrome. J Clin Gastroenterol. 2013;47:112–20.

5. Proust-Lemoine E., Saugier-Veber P., Wemeau J.-L. Polyglandular autoimmune syndrome type 1. Presse Med. 2012;41:e651–62.

6. Orlova E.M., Bukina A.M., Kuznetsova E.S., Kareva M.A., Zakharova E.U., Peterkova V.A. et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73:449–57.