A new variant of alpha-1-antitrypsin deficiency (Siiyama) associated with pulmonary emphysema. |
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| Authors: | K Takabe K Seyama H Shinada T Nouchi Y Miyahara T Nukiwa K Miyake K Tsukimoto M Ichioka F Marumo |
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| Affiliation: | Department of Internal Medicine, Hokushin General Hospital, Nagano, Japan. |
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| Abstract: | A 38-year-old male with pulmonary emphysema due to severely reduced serum alpha-1-antitrypsin (AAT) level (14.5 mg/dl) was found to have an inherited new AAT deficient variant Siiyama. Chest roentgenogram and CT scanning revealed advanced emphysema, and severe obstructive ventilatory impairment was observed. During the 4-year follow-up period, the annual rate of decline of FEV 1.0 showed approximately 10-fold greater than the normal decline in FEV 1.0 (-380 ml/yr). Treatment with tamoxifen in order to raise the serum AAT level only resulted in an insufficient increase. Augmentation therapy of human AAT should be considered in the future. |
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