A New Variant of Alpha-1-Antitrypsin Deficiency (Siiyama) Associated with Pulmonary Emphysema

Kazuhiko TAKABE; Kuniaki SEYAMA; Hideho SHINADA; Toshihiko NOUCHI; Yasuhiro MIYAHARA; Toshihiro NUKIWA; Kazuhiko MIYAKE; Koichi TSUKIMOTO; Masahiko ICHIOKA; Fumiaki MARUMO

doi:10.2169/internalmedicine.31.702

Kazuhiko TAKABE, Kuniaki SEYAMA, Hideho SHINADA, Toshihiko NOUCHI, Yasuhiro MIYAHARA, Toshihiro NUKIWA, Kazuhiko MIYAKE, Koichi TSUKIMOTO, Masahiko ICHIOKA, Fumiaki MARUMO

Author information

Kazuhiko TAKABE
the Department of Internal Medicine, Hokushin General Hospital
Kuniaki SEYAMA
the Department of Respiratory Medicine, Juntendo University School of Medicine
Hideho SHINADA
the Department of Internal Medicine, Hokushin General Hospital
Toshihiko NOUCHI
the Department of Internal Medicine, Hokushin General Hospital
Yasuhiro MIYAHARA
the Department of Internal Medicine, Hokushin General Hospital
Toshihiro NUKIWA
the Department of Respiratory Medicine, Juntendo University School of Medicine
Kazuhiko MIYAKE
the First Department of Internal Medicine, Teikyo University School of Medicine
Koichi TSUKIMOTO
the Second Department of Internal Medicine, Tokyo Medical and Dental University School of Medicine
Masahiko ICHIOKA
the Second Department of Internal Medicine, Tokyo Medical and Dental University School of Medicine
Fumiaki MARUMO
the Second Department of Internal Medicine, Tokyo Medical and Dental University School of Medicine

Keywords: tamoxifen, augmentation therapy, human alpha-1-antitrypsin (AAT)

JOURNAL FREE ACCESS

1992 Volume 31 Issue 5 Pages 702-707

DOI https://doi.org/10.2169/internalmedicine.31.702

Details

Abstract

A 38-year-old male with pulmonary emphysemadue 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 roentogenogram 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.
(Internal Medicine 31 : 702-707, 1992)

Corresponding author

Register with J-STAGE for free!