A Clinical Case of Type 2 Familial Polyglandular Autoimmune Syndrome
Objective of the Paper: To describe a clinical case of type 2 polyglandular autoimmune syndrome (PAS) in a nuclear family with a history of this disorder, to demonstrate ways in which new components of PAS may develop, and to outline possible errors in diagnosing this syndrome.
Key Points: This female patient presented with a non-endocrine autoimmune disorder (vitiligo) at an early age. Later she developed an autoimmune thyroid disorder (chronic autoimmune thyroiditis) and was diagnosed with type 3 PAS. Despite a family history (type 2 PAS in the patient’s mother), typical complaints, and comorbid autoimmune diseases, the diagnosis of primary adrenal insufficiency and type 2 PAS was made four years after the onset of the first symptoms. The significant delay in diagnosis and prolonged lack of adequate hormone replacement therapy worsened the patient’s quality of life and increased the risk of acute adrenal crisis.
Conclusion: Patients with autoimmune disorders require an examination to rule out previously undetected PAS components, especially chronic adrenal insufficiency and calcium metabolism disorders. In nuclear families with a history of PAS, immunological examination and molecular genetic analysis of all relatives should be performed in order to assess the risk of PAS.
Financing: Sponsored by a grant from the Russian Science Foundation (Project 17-75-30035).
Contribution: Larina, A.A. — collection of clinical materials, data review, analysis and interpretation, manuscript preparation; Troshina, E.A. — study concept, approval of the manuscript for publication; Yukina, M.Yu. — patient selection, examination and management, review of critically important material.
Conflict of interes: The authors declare that they do not have any conflict of interests.
A.A. Larina — National Medical Research Center for Endocrinology (a Federal Government-funded Institution), Russian Ministry of Health; 11 Dmitry Ulyanova St., Moscow 117036. E-mail: email@example.com
E.A. Troshina — National Medical Research Center for Endocrinology (a Federal Government-funded Institution), Russian Ministry of Health; 11 Dmitry Ulyanova St., Moscow 117036. eLIBRARY.RU SPIN: 8821-8990. E-mail: firstname.lastname@example.org
M.Yu. Yukina — National Medical Research Center for Endocrinology (a Federal Government-funded Institution), Russian Ministry of Health; 11 Dmitry Ulyanova St., Moscow 117036. eLIBRARY.RU SPIN: 4963-8340. E-mail: email@example.com
- Dedova I.I., Mel'nichenko G.A., red. Endokrinologiya: natsional'noe rukovodstvo. M.: GEOTAR-Media; 2016. 1081 s. (in Russian)
- Husebye E.S., Anderson M.S., Kämpe O. Autoimmune polyendocrine syndromes. N. Engl. J. Med. 2018; 378(12): 1132–41. DOI: 10.1056/NEJMra1713301
- Aung K., Khardori R. (ed.), Talavera F. (ed.), Chausmer A.B. (ed.). Type III polyglandular autoimmune syndrome. http://emedicine.medscape.com/article/124398-verview (дата обращения — 28.03.2019).
- Sperling M., Yau M. Autoimmune polyglandular syndromes. In: Feingold K.R., Anawalt B., Boyce A., Chrousos G., Dungan K., Grossman A. et al. (eds). Endotext. South Dartmouth (MA); 2017. https://www.ncbi.nlm.nih.gov/books/NBK279152 (дата обращения — 28.03.2019).
- Melnichenko G.A., Troshina G.A., Yukina M.Y., Platonova N.M., Bel'cevich D.G. Klinicheskie rekomendacii RAE po diagnostike i lecheniyu pervichnoj nadpochechnikovoj nedostatochnosti u vzroslyh pacientov (proekt). Consilium Medicum. 2017; 4: 8–20. (in Russian)