HUM-MOLGEN DIAGnostics/Clinical Research


22 November 1996
anti-trypsin deficiency/autopsy

We have an autopsy problem case of a young man who had an undiagnosed liver disease pre-mortem, which on liver biopsy was thought to possibly be alpha one anti-trypsin deficiency, but serum was reported as normal levels of MM. He died suddenly and at autopsy he has bridging fibrosis, striking DPAS granules that look all the world like alpha one antitrypsin as well as plexogenic pulmonary vasculopathy (which can be seen in any chronic fibrosing liver disease, but which presumably explains his sudden death). It is a consult case and lungs were not well inflated precluding assessment of emphysema. Does anyone have any ideas on "false negative" alpha one levels and is there any more workup we can do now?

Robert Homer, MD-PhD
Asst Prof of Pathology
fax 203 785 7303
Yale University School of Medicine
tel 203 785 2788
PO Box 208023 New Haven, CT 06520-8023