Special aspects of the clinical course and replacement therapy peculiarities in a patient with autoimmune polyglandular syndrome type 1: a clinical case

Abstract

Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare monogenic autosomal recessive disease characterized by development of multiple organ failure with predominant endocrine glands involvement. The challenges of patient management are related to low adherence to the lifelong multicomponent therapy, high risk of complications, including pneumonia, adrenal insufficiency decompensation, necrotic colitis and other acute infectious and inflammatory diseases. Due to the rarity of this disorder, clinicians lack sufficient experience with management of such patients, which could lead to delayed medical care and patient death. Patient A., 28 years old, was followed up for 10 years in the Endocrinology clinic with the diagnosis of “Autoimmune polyglandular syndrome type 1. Mucocutaneous candidiasis. Primary hypoparathyroidism. Primary chronic adrenal insufficiency. Primary hypothyroidism. Chronic gastroduodenitis. Chronic colitis. Autoimmune alopecia.” The onset of the disease with chronic mucocutaneous candidiasis at the age below 1 year had defined the severe course of the disease, including a wide range of consequently occurring autoimmune diseases associated with recurrent episodes of decompensation of hypoparathyroidism and adrenal insufficiency, as well as the development of acute necrotic colitis at the age of 26. As an adult, the patient admitted that he had previously been insufficiently responsible and attentive to his disease and regular medication intake, with resulting episodes of adrenal insufficiency decompensation and occurrence of the symptoms related to serum calcium fluctuations. Due to abnormalities of cellular and humoral immunity, APS-1 patients are at an extremely high risk for a critical course of COVID-associated pneumonia. In 2020, the patient contracted the coronavirus infection complicated by bilateral pneumonia, followed by respiratory failure, bacterial sepsis and acute renal failure. Despite the timely hospitalization, administration of the state-of-the-art antibacterials and antifungals and all the necessary resuscitation measures, it was not possible to save his life. This clinical observation demonstrates the difficulties of therapeutic management of APS-1 patients with an early disease manifestation, who, due to severe genetically determined impaired immunity, are at high risk of death from an intercurrent infection. The combination of several chronic comorbidities and the need to take a large number of replacement treatments require an individual therapeutic approach, as well as psychological and social adaptation of the patients, starting from their childhood and throughout the whole life, taking into account the frequent psychological problems could lead to low treatment adherence. The timely diagnostics of the disease, understanding of pathophysiology and specifics of its course could contribute to increased qualityadjusted life years of APS-1 patients.