Hashimoto's Thyroiditis and Homozygous Alpha1-Antitrypsin Deficiency

Summary: A patient is described who presented with goitre and was found to have Hashimoto's thyroiditis with low-normal thyroid function maintained by high circulating thyroid-stimulating hormone levels. She was subsequently found to be homozygous for alpha ₁-antitrypsin deficiency with no clinical or laboratory evidence of impaired lung function apart from a slightly reduced diffusing capacity. Treatment with L-Thyroxine resulted in a decrease in goitre size but no change in serum alpha ₁-antitrypsin level. The association of Hashimoto's thyroiditis and alpha ₁-antitrypsin deficiency has not previously been reported.