Alpha 1 antitrypsin deficiency and plasma thromboplastin antecedent deficiency--a new association?
We report a 74-year-old woman presenting with vaginal bleeding and hepatomegaly and was found to have plasma thromboplastin antecedent deficiency and alpha 1 antitrypsin deficiency. She also had liver and lung disease of the type associated with the antiprotease deficiency. The relative rarity of the two deficient states led to family and genetic studies. The possibility of a new genetic syndrome is entertained.
D000368:Aged; D005260:Female; D006467:Hemophilia A; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics; D008173:Lung Diseases, Obstructive / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency