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NHLBI

Alpha-1 Antitrypsin Deficiency - Treatment

inflammation  liver  Protein  lungs 

AAT deficiency currently has no cure, but there are treatments to slow lung damage and treat its complications. Treatment is best managed by a team that includes a primary care doctor, pulmonologist (lung specialist), gastroenterologist (GI specialist), and geneticist (specialist in genetic conditions). People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.

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NHLBI

Alpha-1 Antitrypsin Deficiency - Diagnosis

inflammation  liver  Protein  lungs 

AAT deficiency usually is diagnosed after you develop a lung or liver disease that is related to the condition. But knowing the symptoms and getting an early diagnosis is important to help prevent serious disease, especially with treatment and lifestyle changes.

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NHLB

Alpha-1 Antitrypsin Deficiency - Signs, Symptoms, and Complications

inflammation  liver  Protein  lungs 

The first lung-related symptoms of AAT deficiency may include shortness of breath, less ability to be physically active, and wheezing. Some people may not have any symptoms or complications. AAT deficiency can lead to lung and liver diseases.

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NHLB

Alpha-1 Antitrypsin Deficiency - Screening and Prevention

inflammation  liver  Protein  lungs 

You may want to talk to your doctor about testing for AAT deficiency if you have a parent, sibling, or child with the condition, even if you do not have symptoms. There is no way to prevent AAT deficiency because the condition is inherited.

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NHLB

Alpha-1 Antitrypsin Deficiency - Risk Factors

inflammation  liver  Protein  lungs 

AAT deficiency can affect people of any race or ethnicity. However, the condition occurs most often in white people of European backgrounds. If you have first-degree relatives (siblings, parents, or children) with AAT deficiency, you are at a higher risk for the condition. Even so, it does not mean that you will develop one of the diseases related to the condition.

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NHLBI

Alpha-1 Antitrypsin Deficiency - Causes

inflammation  liver  Protein  lungs 

Alpha-1 antitrypsin (AAT) deficiency happens when you do not make enough AAT protein. The AAT protein is made in your liver. This protein enters your blood and protects your organs, including the lungs, from damage. For example, your immune system is your body’s defense against bacteria and viruses but if it is overactive, it can damage your body while fighting diseases. The AAT protein prevents you from having too much inflammation in your lungs. Without enough AAT protein, your immune system may damage your lungs and lead to lung disease.

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NIH - Office of Research on Women's Health

Methods & Techniques for Integrating Sex into Research

One of the fundamental variables in preclinical biomedical research is sex: whether a cell, tissue, or animal is female or male. Biological sex is an important consideration for this research that underlies drug development, clinical trials, and prevention approaches.

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NIH - Office of Research on Women's Health

NIH Policy on Sex as a Biological Variable

NIH expects that sex as a biological variable will be factored into research designs, analyses, and reporting in vertebrate animal and human studies. Strong justification from the scientific literature, preliminary data, or other relevant considerations must be provided for applications proposing to study only one sex.

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NIH - Office of Research on Women's Health

Infographic: How Sex/Gender Influence Health & Disease

Infographic showing how sex and gender influence health and disease.

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HHS

Report to Congress on Privacy Rule and Security Rule Compliance

Report to Congress on Privacy Rule and Security Rule Compliance

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