What is the prevalence of alpha-1 antitrypsin deficiency?

What is the prevalence of alpha-1 antitrypsin deficiency?

In North America, the prevalence of alpha-1 antitrypsin deficiency is about 1 per 3000 to 5000 people,3,4 similar to that of cystic fibrosis. Up to 5% of people with COPD are thought to have alpha-1 antitrypsin deficiency, yet only 4%–5% of those with a deficiency have been identified.

How many people in the world have alpha-1 antitrypsin?

Based on an analysis of published genetic epidemiological surveys, de Serres et al. [5] concluded back in 2002 that “… it has been estimated that 3.4 million individuals in the world have an AATD genotype that leads to a deficiency of this protein”.

What is the most likely finding in a patient with Alpha-1 antitrypsin deficiency?

Dyspnea is the most common presenting symptom, and many patients have a cough, sputum production, and wheezing, either chronically or with upper respiratory tract infections. Spontaneous secondary pneumothorax may be the presenting manifestation of AAT deficiency, or it may be a complication of the known disease.

How common is alpha-1 antitrypsin deficiency How do people inherit alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. This condition is found in all ethnic groups; however, it occurs most often in whites of European ancestry.

Is alpha-1 antitrypsin deficiency a rare disease?

Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed.

Is alpha-1 antitrypsin deficiency recessive or dominant?

Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure.

Is alpha-1 a rare disease?

Alpha-1 is a rare genetic (inherited) disorder in which people have low levels of AAT in their bloodstream. This disorder can increase your risk of developing lung and liver diseases, including emphysema (damaged air sacs in the lungs) and cirrhosis (liver scarring).

Can you get alpha-1 antitrypsin deficiency from one parent?

When one parent is a carrier and the other parent has alpha-1 antitrypsin deficiency: 2 out of 4 times, their child will have alpha-1 antitrypsin deficiency. 2 out of 4 times, their child will inherit one normal gene and one abnormal gene.

Can you live a normal life with Alpha-1?

Many people with Alpha-1, especially those who do not smoke, do not develop serious complications. They have a normal life expectancy. Other people may develop more serious conditions as a result of the disorder. Getting the right treatment for diseases caused by Alpha-1 can help you live a longer, healthier life.

Is Alpha-1 a rare disease?

How long can a person live with alpha-1 antitrypsin deficiency?

Many people with Alpha-1, especially those who do not smoke, do not develop serious complications. They have a normal life expectancy. Other people may develop more serious conditions as a result of the disorder.