September 4, 2009
Question from London, United Kingdom:
I’m a female Caucasian, age 30. I’ve had type 1 diabetes for 12 years. It was slow-onset. I did not test positive for anti-GAD or anti-insulin antibodies. In spite of this, I was told I have type 1.
I was recently diagnosed with adrenal insufficiency and am on a replacement mineral and corticosteroids. Again, I did not test positive for ACA antibodies or 21-hydroxylase Ab. I did not experience hyperpigmentation before diagnosis. I have Hashimoto’s hypothyroidism and tested positive for TPOab, TGab and TSI. My close family members have: type 1 diabetes, type 2 diabetes, alopecia, vitiligo, Parkinson’s, Graves’ disease, and Hashimoto’s.
Is it possible that someone like me could have PAS-II (Polyglandular Autoimmune Syndrome Type 2 (PAS-2))or is it only people who have antibodies (ACA/anti-GAD/anti-insulin) that can be classed as having that syndrome? Is there some kind of genetic test I could get to clarify if I might have PAS-II? I saw that there is some link between PAS-II and HLA-DR3 and HLA-DR4.
Yes, I think you might be able to be classified with that. You have three endocrine deficiency diseases; the endocrine pancreas, the thyroid, and the adrenal. Even though the antibodies were not positive, they go up and down and negative results do not rule out an autoimmune cause. As for a gene that can be screened, I could not find evidence for use of a specific gene for testing by clinical laboratories. Since there are additional organs that could potentially be involved, you need to continue to have follow-up for other organs, such as ovary, gut with celiac disease, and pernicious anemia. You should also have your family members tested for other endocrine deficiency syndromes, since Autoimmune Polyendocrine Syndrome, Type II is familial.