Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung
disease in adults and liver disease in adults and children.
What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin
deficiency?
The first signs and symptoms of lung disease caused by
alpha-1 antitrypsin deficiency usually appear between ages 20 and 50. The
earliest symptoms are:
Smoking or exposure to tobacco smoke accelerates the appearance of
symptoms and damage to the lungs.
About 10 percent of infants and 15 percent of adults with
alpha-1 antitrypsin deficiency have liver damage. Signs of liver disease can
include:
a swollen abdomen,
swollen feet or legs, and
yellowing of the skin and
whites of the eyes (jaundice).
In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition
known as panniculitis, which is characterized by hardened skin with painful
lumps or patches. Panniculitis varies in severity and can occur at any age.
Cirrhosis of the liver refers to a disease in which normal liver cells are replaced by scar tissue caused by alcohol and viral hepatitis B and C. This disease leads to abnormalities in the liver's ability to handle toxins and blood flow, causing internal bleeding, kidney failure, mental confusion, coma, body fluid accumulation, and frequent infections. Symptoms include yellowing of the skin, itching, and fatigue.
Jaundice is a yellowish staining of the skin and whites of the eyes (sclerae) with bilirubin, the pigment found in bile. Jaundice can be an indicator of liver or gallbladder disease, or it may result from the rupture of red blood cells (hemolysis).
Chronic cough is a cough that does not go away and is generally a symptom of another disorder such as asthma, allergic rhinitis, sinus infection, cigarette smoking, GERD, postnasal drip, bronchitis, pneumonia, medications, and less frequently tumors or other lung disease. Treatment of chronic cough is dependant upon the cause.
Emphysema is a progressive disease of the lungs. The primary cause of emphysema is smoking. Alpha 1-antitrypsin deficiency is a rare disorder that has a genetic predisposition to emphysema. Aging, IV drug use, immune deficiencies, and connect tissue illnesses are also risk factors for emphysema. Emphysema is a subtype of COPD (chronic obstructive pulmonary disease, COLD). Symptoms include shortness of breath and wheezing. Management of symptoms may be achieved with medications, quitting smoking, pulmonary rehabilitation, or surgery.
COPD (chronic obstructive pulmonary disease) is a disorder that persistently obstructs bronchial airflow. COPD mainly involves three related conditions, chronic bronchitis, chronic asthma, and emphysema. Symptoms of COPD include chronic cough, shortness of breath, frequent respiratory infections, wheezing, morning headaches, and pulmonary hypertension. Treatment of COPD is focused on the related condition(s).
Chronic bronchitis is a cough that occurs daily with production of sputum that lasts for at least three months, two years in a row. Causes of chronic bronchitis include cigarette smoking, inhaled irritants, and underlying disease processes (such as asthma, or congestive heart failure). Symptoms include cough, shortness of breath, and wheezing. Treatments include bronchodilators and steroids. Complications of chronic bronchitis include COPD and emphysema.
Smoking is an addiction. More than 430,000 deaths occur each year in the U.S. from smoking related illnesses. Secondhand smoke or "passive smoke" also harm family members, coworkers, and others around smokers. There are a number of techniques available to assist people who want to quit smoking.
Bronchiectasis is a condition in which the bronchial tubes of the lung become damaged. Inflammation from infection or other causes destroys the smooth muscles of the bronchial tubes. Bronchiectasis is a form of COPD (which includes emphysema and chronic bronchitis). There are three primary types of bronchiectasis: 1) cylindrical bronchiectasis; 2) saccular bronchiectasis; and 3) cystic bronchiectasis. Bronchiectasis may also be acquired or congenital. The most common symptoms of bronchiectasis are recurrent cough and sputum production. There is no cure for bronchiectasis. Treatment is often geared toward controlling the symptoms of bronchiectasis.
Weber-Christian disease is a rare inflammatory disease that affects the body's fat tissues. It's also known as relapsing febrile nodular panniculitis syndrome and idiopathic lobular panniculitis. The disorder appears on the skin as red or purple tender, raised lumps. The thighs and lower legs are the most frequently affected areas. Other symptoms may include nausea, vomiting, weight loss, joint pain, and abdominal pain. Though there is no cure for the disease, inflammation may be treated with various antiinflammatory medications.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Bronchitis is a term that describes inflammation of the bronchial tubes
(bronchi and the smaller branches termed bronchioles) that results in excessive
secretions of mucus into the tubes with tissue swelling that may narrow or close
off bronchial tubes.
Chronic bronchitis is defined as a cough that occurs every day with sputum
production that lasts for at least 3 months, 2 years in a row.
The major cause of chronic bronchitis is cigarette smoking; other causes
are bronchial irritants, usually inhaled repeatedly by the affected person.
Ideally, people should seek medical care before chronic bronchitis
develops. People should seek care for tobacco addiction and the occasional
chronic cough (less than daily for 3 months) to potentially avoid developing
chronic bronchitis. Those with chronic bronchitis should seek care for severe
dyspnea, cyanosis, and fever immediately.