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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.

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.

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.

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.

If you have been diagnosed with Marfan syndrome, it is important to follow your treatment plan, make healthy lifestyle changes, and get mental health support. Learn how to prevent or reduce complications in the future. If you are thinking about becoming pregnant, discuss the possible risks with your doctor.

While Marfan syndrome has no cure, treatments can help delay or prevent complications, especially when started early. The type of treatment you receive will depend on what parts of your body are affected and the severity of your condition. You may have a team of doctors and specialists to coordinate your care.

Signs and symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. Some people have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications.

If you have a known family history of Marfan syndrome or physical features of the condition, your doctor may recommend screening to find the condition early. Relatives of people who have Marfan syndrome may also want to have genetic screening. There is no way to prevent Marfan syndrome.

Marfan syndrome is a genetic condition caused by a mutation, or change, in one of your genes, called the fibrillin-1 (FBN1) gene. The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue. Fibrillin-1 also affects levels of another protein that helps control how you grow.

How your pleural disorder is treated depends on what type of pleural disorder you have and how severe it is. Some pleural disorders go away without treatment. Others will require a procedure to remove air, fluid, or other material from the pleural space. The goal of treatment is to relieve symptoms and treat the underlying condition.