Alpha-1 antitrypsin deficiency (AATD) is an
inherited disorder caused by mutations
in the SERPINA1 gene. People with the condition are at risk for developing
serious lung and liver disease. Symptoms and signs of lung disease caused by
this condition include:
The earliest symptoms and signs of lung disease usually develop between 20 and 50 years of age, and are
Other symptoms and signs of alpha-1 antitrypsin deficiency are:
- Rapid heartbeat when going from sitting to standing
- Recurring respiratory infections
- Unintentional weight loss
Lung disease: People with this condition often develop emphysema, with
symptoms of a hacking cough, barrel-shaped chest, and difficulty breathing. If
you have this condition and smoke or are exposed to tobacco smoke, it
accelerates the appearance of emphysema symptoms and lung damage.
Liver disease: Alpha-1 antitrypsin deficiency also cause liver disease in some people with the condition, that include liver cancer, cirrhosis of the liver, an abnormally large liver (hepatomegaly), liver failure, and hepatitis. Liver damage from alpha-1 antitrypsin deficiency causes symptom of a swollen abdomen, swollen legs or feet, and jaundice.
Treatment of AATD depends upon the severity of symptoms. FDA approved drug for AATD is an orphan product called alpha-1-proteinase inhibitor (human), sold under the brand name "Prolastin."
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Hepatitis C Cure (Symptoms, Transmission, Treatments, and Cost)
Hepatitis is inflammation of the liver. There are a variety of toxins, diseases, illicit drugs, medications, bacterial and viral infections, and heavy alcohol use can case inflammation of the liver. Hepatitis C viral infection (HCV) is one type of hepatitis. According to the CDC, in 2014 there were an estimated 30,500 cases of acute hepatitis C infections in the US. An estimated 2.7-3.9 million people in the US have chronic hepatitis C. The virus is spread from person-to-person via blood-to-blood contact. Symptoms of HCV infection include joint pain, jaundice, dark urine, nausea, fatigue, fever, loss of appetites, clay colored stool. Hepatitis C can be cured with medications in most people. There is no vaccine against the hepatitis C virus.
Is Hepatitis A Contagious?
Hepatitis means inflammation of the liver. Hepatitis A is one type of hepatitis. Hepatitis is transmitted through person to person contact, contaminated ice, vegetables, fruits, and untreated water. Hepatitis A can be prevented by the hepatitis A vaccine. Symptoms of hepatitis A may include nausea and/or vomiting, fever, loss of appetite, abdominal pain, dark urine, clay-colored stools, jaundice (yellowish color to skin and/or eyes, or joint pain.
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 anti-inflammatory medications.
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 (jaundice), itching, and fatigue. The prognosis is good for some people with cirrhosis of the liver, and the survival can be up to 12 years; however the life expectancy is about 6 months to 2 years for people with severe cirrhosis with major complications.
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Liver disease can be cause by a variety of things including infection (hepatitis), diseases, for example, gallstones, high cholesterol or triglycerides, blood flow obstruction to the liver, and toxins (medications and chemicals). Symptoms of liver disease depends upon the cause and may include nausea, vomiting, upper right abdominal pain, and jaundice. Treatment depends upon the cause of the liver disease.
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COPD (Chronic Obstructive Pulmonary Disease)
COPD or chronic obstructive pulmonary disease is a lung condition caused by smoking tobacco, exposure to secondhand smoke, and/or air pollutants. Conditions that accompany COPD include chronic bronchitis, chronic cough, and emphysema. Symptoms of COPD include shortness of breath, wheezing, and chronic cough. Treatment of COPD includes GOLD guidelines, smoking cessation, medications, and surgery. The life expectancy of a person with COPD depends on the stage of the disease.
Liver (Anatomy and Function)
The liver is the largest gland and organ in the body. There are a variety of liver diseases caused by liver inflammation, scarring of the liver, infection of the liver, gallstones, cancer, toxins, genetic diseases, and blood flow problems. Symptoms of liver disease generally do not occur until the liver disease is advanced. Some symptoms of liver disease include jaundice, nausea and vomiting, easy bruising, bleeding excessively, fatigue, weakness, weight loss, shortness of breath, leg swelling, impotence, and confusion. Treatment of diseases of the liver depends on the cause.
Jaundice (Hyperbilirubinemia) in Adults
Jaundice (hyperbilirubinemia) in adults may be caused by a variety of medical diseases or conditions. Some cases of jaundice can be managed at home with a doctor's supervision, while other causes of jaundice may be life-threatening. Symptoms of jaundice are yellow skin, yellowing of the whites of the eyes, pale colored stools, dark urine, itchy skin, vomiting, nausea, and rectal bleeding. Treatment of jaundice is focused on the disease or condition that is causing jaundice.
Fatty Liver (NASH)
Nonalcoholic fatty liver disease or NASH occurs due to the accumulation of abnormal amounts of fat within the liver. Fatty liver most likely caused by obesity and diabetes. Symptoms of fatty liver disease are primarily the complications of cirrhosis of the liver; and may include mental changes, liver cancer, the accumulation of fluid in the body (ascites, edema), and gastrointestinal bleeding. Treatment for fatty liver includes avoiding certain foods and alcohol. Exercise, weight loss, bariatric surgery, and liver transplantation are treatments for fatty liver disease.
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. Chronic cough treatment is based on the cause, but may be soothed natural and home remedies.
Hepatitis (Viral Hepatitis A, B, C, D, E, G)
Hepatitis is most often viral, due to infection with one of the hepatitis viruses (A, B, C, D, E, F (not confirmed), and G) or another virus (such as those that cause infectious mononucleosis, cytomegalovirus disease). The main nonviral causes of hepatitis are alcohol and drugs. Many patients infected with hepatitis A, B, and C have few or no symptoms of illness. For those who do develop symptoms of viral hepatitis, the most common are flu-like symptoms including: loss of appetite, nausea, vomiting, fever, weakness, tiredness, and aching in the abdomen. Treatment of viral hepatitis is dependent on the type of hepatitis.
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Smoking (How to Quit Smoking)
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.
Is Hepatitis C Contagious?
Hepatitis C or hep C causes acute and chronic liver disease. Hep C is a form of liver disease with symptoms like fatigue, jaundice, nausea and vomiting, anorexia, and abdominal discomfort. Hepatitis C is a contagious viral infection caused by persons sharing drug needles, surgical instruments that have not been properly sanitized, and organ transplantation.
Hepatitis A (HAV, Hep A)
Hepatitis means inflammation of the liver. Hepatitis A (HAV, Hep A) is one type of liver disease caused by a virus. Since hepatitis A is a virus, it can pass from person to person from eating or drinking contaminated food or coming into contact with contaminated materials containing the virus. Symptoms of hepatitis A include stomach pain, diarrhea, dark yellow urine, jaundice, and more. There is a vaccine to prevent contracting hepatitis A.
Lung Anatomy (Structure and Function)
The lungs are primarily responsible for the exchange of oxygen and carbon dioxide between the air we breathe and the blood. Eliminating carbon dioxide from the blood is important, because as it builds up in the blood, headaches, drowsiness, coma, and eventually death may occur. The air we breathe in (inhalation) is warmed, humidified, and cleaned by the nose and the lungs.
Hepatitis A and B Vaccinations
Hepatitis A and hepatitis B are the two most commnon viruses that infect the liver. Hepatitis A and Hepatitis B can be prevented and treated with immunizations (vaccinations) such as Havrix, Vaqta, Twinrix, Comvax, Pediarix, and hepatitis b immune globulin (HBIG).
Hepatitis C (HCV, Hep C)
Hepatitis C is an inflammation of the liver due to the hepatitis C virus (HCV), which is usually spread by blood transfusion, hemodialysis, and needle sticks, especially with intravenous drug abuse. Symptoms of chronic hepatitis include fatigue, fever, muscle aches, loss of appetite, and fever. Chronic hepatitis C may be cured in most individuals with drugs that target specific genomes of hepatitis C.
COPD vs. Emphysema
COPD (chronic obstructive pulmonary disease) is the term doctors and other healthcare professionals use to describe a group of serious, progressive (worsens over time), chronic lung diseases that include emphysema, chronic bronchitis, and sometimes asthma. The number one cause of COPD or emphysema, is smoking, and smoking is the third leading cause of death in the US.
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.
Is Hepatitis Contagious?
Hepatitis means "inflammation of the liver," and there are several different types of such as A, B, C, D, and E. Some types of hepatitis are contagious and some types are not. Hepatitis symptoms vary upon the type of disease; however, the following symptoms may develop in someone with hepatitis: fatigue, nausea and vomiting, abdominal pain and discomfort, jaundice (yellowing of the skin and whites of the eyes), and loss of appetite. Treatment for hepatitis depends upon the cause. Some types of hepatitis have a vaccine to prevent spread of disease such as hepatitis A and B.
Hepatitis B (HBV, Hep B)
The hepatitis B virus (HBV, hep B) is a unique, coated DNA virus belonging to the Hepadnaviridae family of viruses. The course of the virus is determined primarily by the age at which the infection is acquired and the interaction between the virus and the body's immune system. Successful treatment is associated with a reduction in liver injury and fibrosis (scarring), a decreased likelihood of developing cirrhosis and its complications, including liver cancer, and a prolonged survival.
Emphysema is a COPD (chronic obstructive pulmonary disease) that often occurs with other obstructive pulmonary problems and chronic bronchitis. Causes of emphysema include chronic cigarette smoking, exposure to secondhand smoke, air pollution, and in the underdeveloped parts of the world. Symptoms of emphysema include chronic cough, chest discomfort, breathlessness, and wheezing. Treatments include medication and lifestyle changes.
Chronic Bronchitis (Symptoms, Causes, Treatment, Remedies)
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.
Bronchiectasis has three types, 1) cylindrical bronchiectasis, 2) saccular or varicose bronchiectasis, and 3) cystic bronchiectasis. Causes of bronchiectasis includeinfection, environmental exposure, drug or alcohol abuse, and alpha-1 antitrypsin (congenital). Symptoms of bronchiectasis include shortness of breath, fatigue, chronic cough, bloody sputum, and wheezing. Treatment for bronchiectasis include antibiotics and possibly surgery.
Is Hepatitis B Contagious?
Hepatitis B is a type of liver infection. Hepatitis B is spread through person-to-person contact or through personal items like razors, toothbrushes, etc. Symptoms of hepatitis B include fever, yellowish skin (jaundice), dark urine, fatigue, nausea, and vomiting. There is no drug to cure hepatitis B; however, there is a hepatitis B vaccine available.