Inherited Alpha-1 antitrypsin deficiency and chondrosarcoma: a possible causal relationship

Abstract

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 tumour genesis. Protease inhibitors such as alpha 1-antitrypsin have generally been considered to counteract tumour progression and metastases 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 had also a history of COPD. After chest X-ray and CT, alpha 1-antitrypsin deficiency was suspected. Inherited alpha-1 antitrypsin deficiency (PiZZ homozygous genotype) was confirmed. Alpha 1-antitrypsin deficiency might have facilitated the development of chondrosarcoma. Because of low incidence rate of such diseases, we presume that there is a slight chance for such rare disorders to manifest concurrently in the same patient.

Allogenic blood patch pleurodesis for management of pneumothorax in a Cavalier King Charles Spaniel puppy with multiple pulmonary blebs and bullae

“… 26 Additionally, several rare diseases have been associated with the formation of pulmonary blebs or bullae in children, including Langerhans cell histiocytosis, 27 Birt‐Hogg‐Dubé syndrome and other folliculin gene mutations, 28 , 29 and alpha‐1 antitrypsin deficiency. 30 The dog in this case report had no specific clinical signs, clinicopathologic findings, or imaging findings that were suggestive of a similar underlying disease, but genetic testing and lung histopathology would be required to fully exclude this possibility. In the absence of evidence of underlying lung disease, the etiology of pulmonary blebs and bullae in this case was regarded as idiopathic.…”

“…Rapid growth of the vertical and horizontal dimensions of the thorax in adolescence are hypothesized to lead to overdistension of alveoli in peripheral areas of the lungs with subsequent bulla and bleb formation 26 . Additionally, several rare diseases have been associated with the formation of pulmonary blebs or bullae in children, including Langerhans cell histiocytosis, 27 Birt‐Hogg‐Dubé syndrome and other folliculin gene mutations, 28,29 and alpha‐1 antitrypsin deficiency 30 . The dog in this case report had no specific clinical signs, clinicopathologic findings, or imaging findings that were suggestive of a similar underlying disease, but genetic testing and lung histopathology would be required to fully exclude this possibility.…”

Seltene Ursache eines Spontanpneumothorax

“…In der Literatur sind nur wenige Fälle beschrieben, in denen ein Spontanpneumothorax zur Diagnose eines Alpha-1-Antitrypsin-Mangels führte [2]. In einer Studie gelang bei drei von 39 Patienten (7,7 %) mit einem Pneumothorax der Nachweis eines Alpha-1-Antitrypsin-Mangels [3]. Die drei Patienten hatten unterschiedliche Genotypen (MZ, SZ und ZZ).…”

Alpha-1 antitrypsin, inflammation and quality of life

“…A number of studies suggest that AAT can also exhibit biological activity independent of inhibition of serine proteases (Janciauskiene et al, 2007). Thus, AAT has been reported to play an immunoregulatory role (Li et al, 2009;Janciauskiene et al, 2004) to reduce development of cancer (Serapinas et al, 2010). In vivo, AAT has been shown to protect against TNFα or endotoxin-induced animal lethality and in a mouse model of lung inflammation AAT was highly effective in suppressing inflammation and connective tissue breakdown (Belge et al, 2002).…”