As noted above, both LTBP4 biallelic mutant mice and humans exhibit pulmonary emphysema among other phenotypes. In line with this, a pathology report from a pulmonary resection performed on patient P-38—who harbors the constitutional monoallelic methylation of LTBP4 CpG island 102—dated to the year of the CRC diagnosis, described emphysematous changes and vascular congestion in the lung parenchyma, along with a fibrous area in the pleura. This evidence concerns the gene LTBP4 and pulmonary emphysema.