Polyglandular Autoimmune Syndrome Type 2 (PAS-2)
Prepared by: Daniela Cihakova MD, PhD|
Definition: Diagnosis criteria for polyglandular autoimmune syndrome type 2 (PAS-2) are autoimmune adrenocortical insufficiency with autoimmune thyroiditis and/or type I diabetes mellitus.
Description: PAS-2 is also known as Schmidt’s syndrome when adrenalitis is associated with thyroiditis and Carpenter’s syndrome for adrenalitis with hypoparathyreosis. Gonadal failure or vitiligos are frequently described as part of PAS II. Other conditions include celiac disease, autoimmune hepatitis, alopecia, pernicious anemia, and myasthenia gravis.
Symptoms: Depends on the organ affected.
Diagnosis: Depends on the organ affected. Treatment involves life-long follow up and screening for another glandular failure in patients already diagnosed with PAS-2.
Incidence: PAS-2 is a relatively rare disease. Its prevalence is 1.5-2: 100 000. It is two times more frequent among women. The first signs of PAS-2 usually develop between 20–30 years of age.
Treatment: Depends on the organ affected. Treatment involves life-long follow up and screening for another glandular failure in patients already diagnosed with PAS-2.
Pathogenesis: PAS II is diagnosed when adrenocortical insufficiency with autoimmune thyroiditis and/or type I diabetes mellitus occurs together in one patient. These are well known autoimmune diseases. There are also other pieces of evidence that PAS II is an autoimmune disease:
PAS-2 is associated with DQA1*0501, DQB1*0201 (DQ2) and, because of the linkage disequilibrium (non-random association), with A1, B8, and DR3
- Approximately 50 percent of PAS-2 cases are familiar. The pattern of inheritance is consistent with autosomal dominance with an incomplete penetration
Mouse model: NOD mice show histological signs of adrenalitis, thyroiditis, sialitis, and parathyroiditis.