fenil210/Med-Lamma huggingface dataset:
What is (are) Alpha-1 Antitrypsin Deficiency ?
Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.
                
A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases.
                
Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood.
                
A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin.
                
This article focuses on AAT deficiency as it relates to lung disease.
                
Overview
                
Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Normally, the protein travels through the bloodstream. It helps protect the body's organs from the harmful effects of other proteins. The lungs are one of the main organs that the AAT protein protects.
                
AAT deficiency occurs if the AAT proteins made in the liver aren't the right shape. They get stuck inside liver cells and can't get into the bloodstream.
                
As a result, not enough AAT proteins travel to the lungs to protect them. This increases the risk of lung disease. Also, because too many AAT proteins are stuck in the liver, liver disease can develop.
                
Severe AAT deficiency occurs if blood levels of the AAT protein fall below the lowest amount needed to protect the lungs.
                
AAT deficiency is an inherited condition. "Inherited" means it's passed from parents to children through genes.
                
Doctors don't know how many people have AAT deficiency. Many people who have the condition may not know they have it. Estimates of how many people have AAT deficiency range from about 1 in every 1,600 people to about 1 in every 5,000 people.
                
Outlook
                
People who have AAT deficiency may not have serious complications, and they may live close to a normal lifespan.
                
Among people with AAT deficiency who have a related lung or liver disease, about 3percent die each year.
                
Smoking is the leading risk factor for life-threatening lung disease if you have AAT deficiency. Smoking or exposure to tobacco smoke increases the risk of earlier lung-related symptoms and lung damage. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years.
                
AAT deficiency has no cure, but treatments are available. Treatments often are based on the type of disease you develop. + NHLBI + Alpha-1 Antitrypsin Deficiency
What causes Alpha-1 Antitrypsin Deficiency ?
Alpha-1 antitrypsin (AAT) deficiency is an inherited disease. "Inherited" means it's passed from parents to children through genes.
                
Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins.
                
In AAT deficiency, the AAT proteins made in the liver aren't the right shape. Thus, they get stuck in the liver cells. The proteins can't get to the organs in the body that they protect, such as the lungs. Without the AAT proteins protecting the organs, diseases can develop.
                
The most common faulty gene that can cause AAT deficiency is called PiZ. If you inherit two PiZ genes (one from each parent), you'll have AAT deficiency.
                
If you inherit a PiZ gene from one parent and a normal AAT gene from the other parent, you won't have AAT deficiency. However, you might pass the PiZ gene to your children.
                
Even if you inherit two faulty AAT genes, you may not have any related complications. You may never even realize that you have AAT deficiency. + NHLBI + Alpha-1 Antitrypsin Deficiency
Who is at risk for Alpha-1 Antitrypsin Deficiency? ?
Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent.
                
AAT deficiency is an inherited condition. "Inherited" means the condition is passed from parents to children through genes.
                
If you have bloodline relatives with known AAT deficiency, you're at increased risk for the condition. Even so, it doesn't mean that you'll develop one of the diseases related to the condition.
                
Some risk factors make it more likely that you'll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk for lung disease also may go up if you're exposed to dust, fumes, or other toxic substances. + NHLBI + Alpha-1 Antitrypsin Deficiency
What are the symptoms of Alpha-1 Antitrypsin Deficiency ?
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.
                
Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough.
                
At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines. + NHLBI + Alpha-1 Antitrypsin Deficiency
How to diagnose Alpha-1 Antitrypsin Deficiency ?
Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.
                
Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. He or she also may suspect AAT deficiency if you develop emphysema when you're 45 years old or younger.
                
Specialists Involved
                
Many doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists (lung specialists), and hepatologists (liver specialists).
                
To diagnose AAT deficiency, your doctor will:
                
Ask about possible risk factors. Risk factors include smoking and exposure to dust, fumes, and other toxic substances.
                
Ask about your medical history. A common sign of AAT deficiency is if you have a lung or liver disease without any obvious causes or risk factors. Another sign is if you have emphysema at an unusually early age (45 years or younger).
                
Ask about your family's medical history. If you have bloodline relatives who have AAT deficiency, you're more likely to have the condition.
                
Diagnostic Tests
                
Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.
                
A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have faulty AAT genes.
                
A blood test also may be used. This test checks the level of AAT protein in your blood. If the level is a lot lower than normal, it's likely that you have AAT deficiency.
                
Lung-Related Tests
                
If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography (to-MOG-rah-fee) scanning, also called CT scanning.
                
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working.
                
High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung disease and how severe it is. + NHLBI + Alpha-1 Antitrypsin Deficiency
What are the treatments for Alpha-1 Antitrypsin Deficiency ?
Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease).
                
If you have symptoms related to AAT deficiency, your doctor may recommend:
                
Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD.
                
Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs.
                
Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best.
                
Extra oxygen, if needed.
                
A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it.
                
Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs.
                
Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease.
                
People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.
                
Future Treatments
                
Researchers are working on possible treatments that will target the faulty AAT genes and replace them with healthy genes. These treatments are in the early stages of development.
                
Researchers also are studying therapies that will help misshapen AAT proteins move from the liver into the bloodstream. They're also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein.
                
If you're interested in new treatments, ask your doctor about ongoing clinical trials for AAT deficiency. + NHLBI + Alpha-1 Antitrypsin Deficiency
How to prevent Alpha-1 Antitrypsin Deficiency ?
You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes).
                
If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition.
                
You can take steps to prevent or delay lung diseases related to AAT deficiency. One important step is to quit smoking. If you don't smoke, don't start.
                
Talk with your doctor about programs and products that can help you quit smoking. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
                
For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include basic information about how to quit smoking.
                
Also, try to avoid secondhand smoke and places with dust, fumes, or other toxic substances that you may inhale.
                
Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items.
                
If you have a lung disease related to AAT deficiency, ask your doctor whether you might benefit from augmentation therapy. This is a treatment in which you receive infusions of AAT protein.
                
Augmentation therapy raises the level of AAT protein in your blood and lungs. (For more information, go to "How Is Alpha-1 Antitrypsin Deficiency Treated?") + NHLBI + Alpha-1 Antitrypsin Deficiency
What causes Primary Ciliary Dyskinesia ?
Primary ciliary dyskinesia (PCD) is a rare, inherited disease. "Inherited" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.
                
Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Cilia are tiny, hair-like structures that line the airways.
                
The airways include your nose and linked air passages; mouth; larynx (LAR-ingks), or voice box; trachea (TRA-ke-ah), or windpipe; and tubes called bronchial tubes or bronchi, and their branches.
                
Cilia move mucus (a slimy substance) through your airways and toward your mouth to be coughed or sneezed out of your body. The mucus contains inhaled dust, bacteria, and other small particles.
                
Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders.
                
Primary Ciliary Dyskinesia
                

                
No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease.
                
If a child inherits a faulty gene (or genes) from only one parent, he or she may be a "PCD carrier." Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children. + NHLBI + Primary Ciliary Dyskinesia
Who is at risk for Primary Ciliary Dyskinesia? ?
Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups.
                
Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without knowing that they have the disease. + NHLBI + Primary Ciliary Dyskinesia
What is (are) Pulmonary Embolism ?
Pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE, is a sudden blockage in a lung artery. The blockage usually is caused by a blood clot that travels to the lung from a vein in the leg.
                
A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus (EM-bo-lus).
                
PE is a serious condition that can:
                
Damage part of your lung because of a lack of blood flow to your lung tissue. This damage may lead to pulmonary hypertension (increased pressure in the pulmonary arteries).
                
Cause low oxygen levels in your blood.
                
Damage other organs in your body because of a lack of oxygen.
                
If a blood clot is large, or if there are many clots, PE can cause death.
                
Overview
                
PE most often is a complication of a condition called deep vein thrombosis (DVT). In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
                
Deep vein clots are not like clots in veins close to the skin's surface. Those clots remain in place and do not cause PE.
                
Outlook
                
The exact number of people affected by DVT and PE isn't known. Estimates suggest these conditions affect 300,000 to 600,000 people in the United States each year.
                
If left untreated, about 30 percent of patients who have PE will die. Most of those who die do so within the first few hours of the event.
                
The good news is that a prompt diagnosis and proper treatment can save lives and help prevent the complications of PE. + NHLBI + Pulmonary Embolism
What causes Pulmonary Embolism ?
Major Causes
                
Pulmonary embolism (PE) usually begins as a blood clot in a deep vein of the leg. This condition is called deep vein thrombosis. The clot can break free, travel through the bloodstream to the lungs, and block an artery.
                
The animation below shows how a blood clot from a deep vein in the leg can travel to the lungs, causing pulmonary embolism. Click the "start" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames.
                

                

                
Blood clots can form in the deep veins of the legs if blood flow is restricted and slows down. This can happen if you don't move around for long periods, such as:
                
After some types of surgery
                
During a long trip in a car or airplane
                
If you must stay in bed for an extended time
                
Blood clots are more likely to develop in veins damaged from surgery or injured in other ways.
                
Other Causes
                
Rarely, an air bubble, part of a tumor, or other tissue travels to the lungs and causes PE. Also, if a large bone in the body (such as the thigh bone) breaks, fat from the bone marrow can travel through the blood. If the fat reaches the lungs, it can cause PE + NHLBI + Pulmonary Embolism
Who is at risk for Pulmonary Embolism? ?
Pulmonary embolism (PE) occurs equally in men and women. The risk increases with age. For every 10 years after age 60, the risk of having PE doubles.
                
Certain inherited conditions, such as factor V Leiden, increase the risk of blood clotting and PE.
                
Major Risk Factors
                
Your risk for PE is high if you have deep vein thrombosis (DVT) or a history of DVT. In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
                
Your risk for PE also is high if you've had the condition before.
                
Other Risk Factors
                
Other factors also can increase the risk for PE, such as:
                
Being bedridden or unable to move around much
                
Having surgery or breaking a bone (the risk goes up in the weeks following the surgery or injury)
                
Having certain diseases or conditions, such as a stroke, paralysis (an inability to move), chronic heart disease, or high blood pressure
                
Smoking
                
People who have recently been treated for cancer or who have a central venous catheter are more likely to develop DVT, which increases their risk for PE. A central venous catheter is a tube placed in a vein to allow easy access to the bloodstream for medical treatment.
                
Other risk factors for DVT include sitting for long periods (such as during long car or airplane rides), pregnancy and the 6-week period after pregnancy, and being overweight or obese. Women who take hormone therapy pills or birth control pills also are at increased risk for DVT.
                
The risk of developing blood clots increases as your number of risk factors increases. + NHLBI + Pulmonary Embolism
What are the symptoms of Pulmonary Embolism ?
Major Signs and Symptoms
                
Signs and symptoms of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing, or coughing up blood. An arrhythmia (irregular heartbeat) also may suggest that you have PE.
                
Sometimes the only signs and symptoms are related to deep vein thrombosis (DVT). These include swelling of the leg or along a vein in the leg, pain or tenderness in the leg, a feeling of increased warmth in the area of the leg that's swollen or tender, and red or discolored skin on the affected leg.
                
See your doctor right away if you have any signs or symptoms of PE or DVT. It's also possible to have PE and not have any signs or symptoms.
                
Other Signs and Symptoms
                
Some people who have PE have feelings of anxiety or dread, light-headedness or fainting, rapid breathing, sweating, or an increased heart rate. + NHLBI + Pulmonary Embolism
How to prevent Pulmonary Embolism ?
Preventing pulmonary embolism (PE) begins with preventing deep vein thrombosis (DVT). Knowing whether you're at risk for DVT and taking steps to lower your risk are important.
                
Exercise your lower leg muscles if you're sitting for a long time while traveling.
                
Get out of bed and move around as soon as you're able after having surgery or being ill. The sooner you move around, the better your chance is of avoiding a blood clot.
                
Take medicines to prevent clots after some types of surgery (as your doctor prescribes).
                
Follow up with your doctor.
                
If you've already had DVT or PE, you can take more steps to prevent new blood clots from forming. Visit your doctor for regular checkups. Also, use compression stockings to prevent chronic (ongoing) swelling in your legs from DVT (as your doctor advises).
                
Contact your doctor right away if you have any signs or symptoms of DVT or PE. + NHLBI + Pulmonary Embolism