Autoimmune polyendocrine syndrome type 1 (APS-1) is an inherited autoimmune condition that affects many of the body’s organs. Symptoms often begin in childhood and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. Complications of this disorder can affect the skin and nails, the gonads, the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Most individuals with APS-1 develop earlier and more severe symptoms than individuals with APS-2, a related disease.
Signs and Symptoms
The most common symptoms of APS-1 include:
- Abnormal calcium-phosphate regulating hormone level
- Abnormal fingernail morphology
- Abnormality of the cerebral vasculature
- Adrenal hyperplasia
- Autoimmunity
- Chronic mucocutaneous candidiasis
- Decreased circulating cortisol level
- Opacification of the corneal stroma
- Photophobia
- Visual impairment
The following symptoms occur in a significant minority of APS-1 patients
- Cataract
- Alopecia
- Cerebral calcification
- Hypopigmented skin patches
In terms of diagnosis for this condition, the following methods/tests are available:
- Endoscopic
- CT scan
- Serum endocrine autoantibody screen
- Histologic test
Management Strategies / Treatments
The treatment of APS-1 will depend upon its specific features. Mucocutaneous candidiasis is treated with oral antifungal agents, such as fluconazole or itraconazole. Hypoparathyroidism is treated with a combination of oral calcium and vitamin D (usually, calcitriol). Adrenal insufficiency is treated with oral corticosteroids and mineralosteroids. Adrenal gland transplants may also be indicated.
Pathophysiology and Epidemiology
APS-1 is a progressive disease, with different symptoms typically appearing at different stages. For example, chronic mucocutaneous candidiasis and hypoparathyroidism often appear in childhood while adrenal insufficiency often starts around age 20.
APS-1 is inherited in autosomal recessive fashion due to a defect in the AIRE gene.
Other names
APS-1, autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs), polyendocrine autoimmune syndromes
Resources
To learn more about autoimmune polyendocrine syndrome and other autoimmune disorders visit, https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/