Alpha-1 Antitrypsin Deficiency, Emphysema, and Cirrhosis in an Adult

The Liver in α₁-Antitrypsin Deficiency

“…An amorphous material was present within the lumen of the endoplasmic reti culum, which was markedly dilated. This observation has been confirmed by others, the two abnormalities -amorphous material and dilatation of the endoplasmic reticulum -being observed either only in the rough endoplasmic reticulum [8,10,[51][52][53], or in both the rough and smooth endoplasmic reticulum [7, 23, 24, 3 1, 39], Sharp [51 ] claimed that the amorphous material was never observed in the Golgi apparatus; in fact the dilatation of the endoplasmic reticulum is so conspicuous that it may be difficult to identify with certainty the two components of the endoplasmic reticulum and even the Golgi apparatus [Feldmann, unpubl. data].…”

“…The amorphous material has not been observed in the cytoplasm or in the other cell organelles; with only one exception in one case [7] it has never been seen in lysosomes [51,53]. Little information is gained from the structure of this material which is described as amorphous [24,31,39,[51][52][53] and electron-dense [7,8]; DeLellis et al [10] noted, however, that the material contained microfibrils, about 25-50 A in diameter. The ultrastructural identification of the deposits was achieved only recently using peroxidase-labelled antibodies [16].…”

“…Cirrhosis may be associated with pulmonary emphy sema [3,8,37,46] or may be the only manifestation of oq-AT deficiency [7,31]. It has been observed in heterozygous [7] as well as homozygous [3, 8, 31.…”

“…Cirrhosis is a well-established hepatic manifestation of oq-AT deficiency in the adult; it does not differ from cirrhosis from other causes in the adult [3,7,8,31,37,46], Just as in the case of children, the duration of follow-up of known cases does not at present permit an exact assessment of the natural history of the disease. Cirrhosis may be associated with pulmonary emphy sema [3,8,37,46] or may be the only manifestation of oq-AT deficiency [7,31].…”

“…Histochemical results have strongly suggested that the material did not contain lipids, but rather glycoproteins [10,24,39,45], Studies using immunofluorescence [1,7,8,10,24,39,45,[51][52][53] and immunoperoxidase [16] have shown that the globules contained material antigenically similar to aq-AT. in addition, the two latter techniques have revealed that the small globules were uniformely stained with the labelled antibody, whereas the large globules were stained only at the periphery [10,16], This observation suggests that the deposits might not consist purely of oq-AT [10] -or at least that only the periphery is antigenically similar to sq-AT.…”