When you have AAT deficiency, you are more susceptible to panniculitis. This skin condition is characterized by tender, ill-defined skin that is characterized by violaceous plaques, small central ulcerations, and flaccid bulla. A biopsy reveals the presence of neutrophils in the reticular dermis. The subcutaneous fat consists of a lobular infiltrate of neutrophils and mixed lobular and septal patterns of inflammation. The skin ulcerated with this disease typically exhibits liquefactive necrosis of dermal collagen and a scarring process.
The liver produces alpha-1 antitrypsin proteins in large amounts and distributes them throughout the body. However, the gene that causes this deficiency has mutations that damage the liver. Children inherit the condition from both parents, and have one mutated copy of the SERPINA1 gene from each parent. It is more common in Caucasians. Infection with alpha-1 antitrypsin deficiency is often fatal.
If your doctor suspects AAT deficiency, he or she should refer you to a gastroenterologist or pulmonologist. This is because AAT deficiency leads to an imbalance between the antiprotease and the protease. This imbalance favors tissue proteolysis, which can damage tissue. Fortunately, panniculitis is rare in patients with AAT deficiency.
If you suspect you have AAT deficiency, blood tests are the most reliable way to find out for sure. You may experience chest pain, wheezing, crackles, or decreased breath sounds. You may have a barrel-shaped chest. You should also get blood tests and an alpha-1 genotyping to find out your genetics. If you notice any of these symptoms, it is a good idea to seek medical attention.
Because AAT deficiency causes lung damage and liver failure, it is best to get tested for AAT before your symptoms become severe. Although there is no treatment for AAT deficiency, your doctor may suggest treatments aimed at raising the amount of AAT in your blood, which may help prevent the development of lung damage. These treatments are called augmentation therapy and may be used in cases of emphysema.
People with AATD should visit a geneticist as soon as possible. This is because the condition affects between 80,000 and 100,000 people in the United States. Genetic counseling is recommended, and the Alpha-1 Foundation can provide assistance to those who need it. You can also find support groups affiliated with the Foundation, which offer resources for patients, information on pre-transplant care, and information for families of people with AAT deficiency.
The symptoms of AAT deficiency may be chronic, such as fatigue and nausea. However, they may also appear during colds and flu. Liver disease can also affect the kidneys, but this is rare. Symptoms of AAT deficiency can include swollen abdomen, coughing up blood, yellow skin, and whites of the eyes. People with AAT deficiency may also experience skin conditions that are characterized by hard, crusty skin, or red lumps.
While AAT deficiency is not contagious, it can affect your health in the future. AAT deficiency has been linked to chronic bronchitis and lung disease. Smokers are more likely to develop the condition than non-smokers. AAT deficiency can lead to lung disease, including COPD, which is a life-threatening condition.
AAT deficiency is highly associated with the ZZ type of the syndrome, but the severity of disease can vary widely among people with the condition. In some cases, the disease is asymptomatic, but in more severe cases, it can lead to lung failure, necrotizing panniculitis, and secondary vasculitis. Although there have been some cases of secondary vasculitis, these cases have not been replicated in a larger cohort.