Autoimmune Polyglandular Syndrome Associated with Idiopathic Giant Cell Myocarditis

Abstract

The autoimmune polyglandular syndrome (APS) is characterized by a variable coexistence of several autoimmune diseases, affecting predominantly endocrine glands. In general two types of APS are distinguished. Type 1 APS is an autosomal recessive disorder often leading to insufficiency of the adrenal cortex, the parathyroid glands, and/or the gonads. This type of APS often affects the skin in form of chronic mucocutaneous candidiasis and ectodermal dystrophies (vitiligo, alopecia, keratopathy, dystrophy of dental enamel and nails). The second form of APS is a polygenic disease which usually involves the adrenal gland, the thyroid and the pancreatic beta-cells. In rare cases APS type 2 is associated with myasthenia gravis, autoimmune thrombocytopenic purpura, Sjogren's syndrome or rheumatoid arthritis. Here we describe a case of APS with the unusual combination of type 1 diabetes, secondary adrenocortical insufficiency, growth hormone deficiency, and primary hypothyroidism associated with lethal idiopathic giant cell myocarditis. The combination of APS and idiopathic giant cell myocarditis which is a rare, frequently fatal autoimmune disorder of myocardium affecting most commonly young individuals has not been reported so far.

Isolated Giant Cell Myocarditis in the Atrium: An Incidental Finding?

“…Based on the Multicenter Giant Cell Myocarditis Study, a registry of 63 patients with GCM, the rate of death or cardiac transplantation was 89%, with a median survival of 5.5 months from onset of symptoms to time of death or transplant 1 . Although the cause of GCM is unknown, numerous case reports have associated autoimmune disorders, including myasthenia gravis, Crohn's disease or ulcerative colitis, Systemic Lupus Erythematosus (SLE), and Hashimoto's thyroiditis 2–4 …”

“…1 Although the cause of GCM is unknown, numerous case reports have associated autoimmune disorders, including myasthenia gravis, Crohn's disease or ulcerative colitis, Systemic Lupus Erythematosus (SLE), and Hashimoto's thyroiditis. [2][3][4] The diagnosis of GCM can be established by histological examination of myocardial tissue. Characteristic histological finding include an inflammatory infiltrate predominantly of lymphocytic origin and multinucleated giant cell formation without evidence of sarcoid-like granulomas.…”

Autoimmune cardiac-specific T cell responses in dilated cardiomyopathy

“…Lack of intra-medullary self-antigen encounter by T cell precursors results in massive emigration of mature autoreactive T cells into many peripheral compartments including the myocardium [13,14], leading to multi-organ autoimmune inflammatory disease, a human condition called autoimmune polyendocrinopathy syndrome type 1 (APS1) [15].…”

Fatal giant cell myocarditis in a patient with multiple autoimmune disorders

“…This underscores the highly possible autoimmune nature of GCM in a patient with a genetic susceptibility to autoimmune disorders. One earlier case report of GCM associated with the autoimmune polyglandular syndrome with an unusual combination of T1DM, secondary adrenal insufficiency, growth hormone deficiency and primary hypothyroidism has been described 9. In the present case, the patient had no signs of adrenal insufficiency and evaluation of the pituitary function was normal.…”