![]() ![]() Worldwide, it is estimated that 185 million people have one copy of the S or Z allele and one copy of the M allele in each cell (MS or MZ). ![]() Those with the SZ combination have an increased risk of developing lung disease, particularly if they smoke. Individuals with two copies of the Z allele (ZZ) in each cell have a high risk of developing lung disease (such as emphysema) and liver disease associated with alpha-1 antitrypsin deficiency. For example, the S allele produces moderately low levels of this protein, and the Z allele produces very little alpha-1 antitrypsin. Other versions of the SERPINA1 gene lead to reduced levels of alpha-1 antitrypsin. Most people in the general population have two copies of the M allele (MM) in each cell. The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait. ![]() This condition is inherited in an autosomal codominant pattern. Panniculitis varies in severity and can occur at any age. ![]() In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma. Signs of cirrhosis include a swollen abdomen and jaundice. Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.Ībout 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, and fatigue. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 25 and 50. The signs and symptoms of the condition and the age at which they appear vary among individuals. Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |