Inherited alpha-1 antitrypsin deficiency and chondrosarcoma - causal relationship?

Alpha 1-antitrypsin deficiency is a genetic risk factor for manifestation of COPD and chronic liver diseases. There is an ongoing worldwide discussion concerning the role of serpins (serine protease inhibitors) in tumor genesis. Protease inhibitors such as alpha 1-antitrypsin have generally been considered to counteract tumor progression and metastasis because of their ability to inhibit proteases. In this case report we analyze relationship between inherited alpha-1 antitrypsin deficiency and chondrosarcoma. A 47-year-old woman was admitted to the hospital with relapse signs of humerus chondrosarcoma. The patient also had a history of COPD. After chest X-ray and CT, alpha 1-antitrypsin deficiency was suspected. Severe alpha-1 antitrypsin deficiency (PiZZ homozygous genotype) was confirmed. Alpha 1-antitrypsin deficiency might have facilitated the development of chondrosarcoma. Because of a small incidence rate of such diseases, we presume that there is a slight chance for such rare disorders to manifest concurrently in the same patient.