predominant<\/span> in Caucasians of European and North American descent.<\/p>\nMen and women of any age are equally affected by panniculitis associated with alpha-1 antitrypsin deficiency, and it may rarely arise in children. <\/p>\n
Since alpha-1-antitrypsin deficiency is not correctly diagnosed, the true predominance<\/span> of panniculitis due to alpha-1-antitrypsin deficiency is difficult to determine. One study reported that panniculitis affected 0.9% of ZZ homozygotes for alpha-1-antitrypsin deficiency.<\/p>\nPanniculitis may be preceded by trauma<\/span>. This is because an injury causes greater activation of the protease and a cascade of inflammatory<\/span> events aimed at healing the wound.<\/p>\n<\/span>What causes alpha-1 antitrypsin deficiency?<\/span><\/h2>\n<\/span>Genetics<\/span><\/h3>\nAlpha-1-antitrypsin deficiency is usually due to a mutation<\/span> in chromosome<\/span> 14)<\/p>\nAlpha-1-antitrypsin deficiency is a autosomal<\/span> co-dominant disorder, meaning that two different versions (alleles<\/span>) of a gene<\/span> They are expressed in an individual. Each allele<\/span> makes a slightly different protein. Both alleles influence the characteristics and severity of the deficiency disease. <\/p>\nThere are more than 90 known mutant alleles of the alpha-1-antitrypsin gene, and they are classified based on their acidic starch. gel<\/span> mobility (F = fast, M = medium, S = slow, Z = very slow). A normal level of a variant enzyme<\/span> with altered activity it can also cause clinical disease.<\/p>\nthe genotype<\/span> (of a person genetic<\/span> makeup) and its combination of these genes<\/span> Determine the degree of the deficiency. The normal genotype is \u201cMM\u201d has a normal level of alpha-1-antitrypsin. Patients with two \u201cZZ\u201d genes (homozygous) have an 85% alpha-1-antitrypsin deficiency. This type is the most commonly associated with emphysema. <\/p>\n<\/span>\nPathogenesis<\/span> <\/span><\/h3>\nAlpha-1-antitrypsin is produced primarily in the liver and regulates several proteolytic<\/span> enzymes<\/span> including trypsin, elastase, chymotrypsin, factor VIII, collagenase and kallikrein. Lack of alpha-1 antitrypsin leads to increased activity of these enzymes and located<\/span> Destruction of tissues.<\/p>\n<\/span>What are the clinical features of alpha-1 antitrypsin deficiency?<\/span><\/h2>\nAlpha one antitrypsin deficiency leads to inflammation and necrosis<\/span> in various organs<\/p>\n<\/span>Lung disease <\/span><\/h3>\n\n- Alpha-1-antitrypsin generally protects the lungs from elastase enzymes produced by neutrophils<\/span><\/span>. <\/li>\n
- When alpha 1 antitrypsin is deficient, elastase enzymes can damage and scar<\/span> lung tissue that causes emphysema.<\/li>\n
- Asthma, bronchiectasis and chronic<\/span> obstructive pulmonary<\/span> Illnesses are also more frequent.<\/li>\n
- Lung disease is much more severe in smokers than in non-smokers with alpha-1 antitrypsin deficiency.<\/li>\n<\/ul>\n
<\/span>Liver disease<\/span><\/h3>\n\n- The abnormal alpha-1-antitrypsin protein builds up inside liver cells (hepatocytes<\/span>) and can cause hepatitis<\/span>.<\/li>\n
- Hepatitis may present with a swollen abdomen, leg edema<\/span> or jaundice<\/span>.<\/li>\n
- Liver disease is accelerated by drinking alcohol.<\/li>\n
- Later, cirrhosis (scarring of the liver) occurs.<\/li>\n
- This increases the risk of hepatocellular carcinoma<\/span>.<\/li>\n<\/ul>\n
<\/span>Pancreatic disease <\/span><\/h3>\n\n- Elastase is a pancreatic enzyme.<\/li>\n
- Increased elastase due to alpha-1-antitrypsin deficiency can cause chronic pancreatitis<\/span>.<\/li>\n
- Chronic pancreatitis leads to steatorrhea, malabsorption, vitamin deficiency (A, D, E, K, B12<\/sub>), diabetes and weight loss.<\/li>\n<\/ul>\n
<\/span>kidney disease<\/span><\/h3>\n\n- Membranoproliferative glomerulonephritis<\/li>\n<\/ul>\n
<\/span>Panniculitis<\/span><\/h3>\nIn alpha-1-antitrypsin deficiency disease:<\/p>\n