Hi, I am just curious. Few days ago I saw a TV show. It was about genetic diseases. Doctors mentioned, briefly, something about autoimmune polyendocrinopathy. This illness really surprised me. However, the doctors explained a lot of things using medical terms that are unknown to me. I was wondering if you can explain autoimmune polyendocrinopathy to me in plain English.
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Hi, autoimmune polyendocrinopathy, APECED, is an inheritable, genetic, disease. It is characterized by hypothyroidism, yeast infection and adrenal insufficiency. Person who is suffering from APECED shows at least two of these conditions. Autoimmune means that person's immune system turns against the body by attacking its tissue like lungs, liver and skin amongst other. The scientist learned about this condition some years ago when a new gen was found. It was called AIRE. Scientists think that change in this gen is responsible for causing autoimmune polyendocrinopathy. In order to have an APECED, child must inherit two changed AIRE gens, one from each parent. Treatment of APECED is focused on treating the specific problem that has developed as a consequence of APECED. An outcome of the treatment depends on curing the hormone deficiencies and more importantly whether the infection can be controlled.
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