Alpha One Antitrypsin Deficiency Diagnosis
Alpha one antitrypsin is a genetic disorder which is associated with destruction of the cells of the lungs and the liver. Though difficult to diagnose there are certain risk factors associated with the condition,
- The condition is more common among the North Europeans and whites in general
- There is no difference in terms of gender and it affects males and females equally
- The condition has a bimodal distribution, as it affects neonates and infants on one hand and individual above the age of fifty years on the other hand.
Alpha 1 Antitrypsin Deficiency (AAT) Symptoms
The associated symptoms of alpha one antitrypsin deficiency condition include emphysema and liver failure, depending upon the severity of the condition and the involvement of the organ.Symptoms with respiratory problems include breathlessness in severe cases. In patients with liver problems the condition is presented in the form of jaundice, gastrointestinal disturbance, weakness, fever, etc.
Alpha One Antitrypsin Deficiency Treatment
AAT treatment depends upon symptoms of the condition. Augmentation therapy is found to be effective in patients with respiratory symptoms. In this therapy, the patient is injected with alpha one antitrypsin freshly prepared from human plasma, intravenously. In cases of patients with hepatic problems, liver transplant is recommended.
Alpha 1 Antitrypsin Deficiency Life Expectancy
Alpha one-antitrypsin (AAT) deficiency is one of the three most leathal genetic disorders among adults.Its prevalence is one in 3000 individual and is estimated to contribute to over 0.1 million deaths annually.
The morbidity and mortality rates with the disease are unknown as not all patients develop the symptoms. But the mortality is as high as 60% among individuals who develop the symptoms of the disease.