Doctor insights on:
Can You Inherited Emphysema
COPD may include chronic bronchitis, emphysema, or both. Chronic bronchitis is the production of increased mucus caused by inflammation. Bronchitis is considered chronic if you cough and produce excess mucus most days for three months in a year, two years in a row. Emphysema is a disease that damages the air sacs and/or the smallest breathing tubes in the lungs. ...Read more
Can you tell me ways on developing "acquired" (not congenital or inherited) diffuse pulmonary avms?
Incurable: There are many incurable conditions but most are not common. Please let me know why you are asking that question and I will try and give you some advice. In those families with incurable genetic diseases there is always concern and that is hard to control. That said, one of my nephews was in that position some years ago but survived. He is now well and the proud father of five kids. ...Read moreSee 1 more doctor answer
The initial signs: and symptoms of Tay-Sachs can be similar to some other genetic diseases because they are non-specific developmental signs, such as regression or lack of progression in development, lack of visual tracking and seizures. Please check out this link to find out more and discuss your doctor. http://ntsad.org/index.php/tay-sachs/classic-infantile-form ...Read more
Can mutations in hla genes cause people to be predisposed to possibly developing an autoimmune condition?
Yes: Hla controls the immune system and mutations in hla and other genes in the same area may predispose to autoimmune disorders, especially complement deficiency. ...Read more
Methemoglobinemia: Methemoglobinemia is called "blue man disease" because blood has a blue tint (instead of red) due to methemoglobin. It can be caused by ingestion of certain drugs or compounds. A genetic form is due to nadh-cytochrome b5 reductase deficiency (an enzyme) which causes decreased oxygen carrying capacity of the blood, with resultant cyanosis (=blueness) and hypoxia (low oxygen in blood). ...Read more
Carefully!: Advanced emphysema and respiratory distress are different. Both may require supplemental oxygen. Respiratory distress may result from many causes other than emphysema and almost always requires extra o2. Pts with severe emphysema or COPD rarely may slow or stop breathing with extra o2 because it takes away their urge to breathe. O2 must be given with extra caution to those pts. ...Read moreSee 1 more doctor answer
COPD: Chronic obstructive pulmonary disease (COPD) is mainly a problem that results in difficulty exhaling air due to airway narrowing. This results in air being trapped within the lung because it can't be exhaled, the trapped air doesn't participate in gas exchange. Also in severe COPD, many people also have emphysema which is destruction of lung tissue that participates in gas exchange ...Read more
Can you tell me how I could tell whether certain disorders are autosomal recessive, autosomal dominant, or x-linked?
Confusing question: If you are aware of the name of the disorder you can look it up.The NIH website has many such listings. Geneticists begin the process by compiling family trees of affected persons and sorting the issue out over time. ...Read more
Many: There are many that include blood vessel disorders and clotting issues among others. Best to consult with your physician and ask relatives about similar problems. ...Read more
Multifactorial: The inheritance of congenital heart defects follows a different pattern than commonly thought of genetic traits like skin or eye color. The risk to any newborn is a little less than 1%. The risk of a subsequent child i higher - about 2-3%. The risk to the child if the mother (or father although the numbers are lower)is affected is about 6-8% and varies with the defect. ...Read moreSee 1 more doctor answer
Alpha one?: Are you referring to alpha-1 antitrypsin deficiency? If so, the symptoms are basically the same as copd, they just occur at a younger age than expected (like 20-30s). Symptoms include cough, shortness of breath, wheezing, etc. If the person smokes, the disease is accelerated. Diagnosis is made via a blood test. Treatment includes enzyme replacement as well as usual COPD therapies. ...Read more
Pulmonary Medicine: Inherited emphysema may be caused by any one of several dozen different genetic conditions. Alpha-1 antitrypsin deficiency is one well known cause: http://ghr.Nlm.Nih.Gov/condition/alpha-1-antitrypsin-deficiency. Your pulmonary doctor will be very familiar with these conditions, can diagnose the exact genetic cause, and will develop a personalized treatment plan for you. If you smoke, stop now. ...Read more
"Inherited": Usually means susceptibility to emphysema due to lack of functional in the protein "alpha-1 trypsin inhibitor" (a1at). This is due to one of several possible mutations in the gene, and only some of those mutations are associated with liver disease. There are no other known genes for "inherited emphysema" that I am aware of, so i can't give you other questions to speak to your doctor about. ...Read more
Smoking Cessation: The most important thing is to stop the cause, which in the vast majority of cases is smoking-related. Thereafter, treatment focuses on keeping the airways open with medications. There is less room in the lungs (even though they're bigger) for gas exchange, so many of these patients require supplemental oxygen. ...Read more
Possibilities...: Most of the time, COPD is caused by smoking, if you are a non-smoker, there are environmental exposures that can contribute so what type of work you do may be relevant. There is also a form of COPD, alpha1 antitrypsin deficiency, which is caused by an enzyme deficiency. This can be diagnosed via a blood test and the enzyme can be replaced so the disease won't progress further. ...Read moreSee 1 more doctor answer
COPD: Emphysema is a form of chronic obstructive pulmonary disease (copd). It is characterized by chronic obstruction in the airways usually due to smoking. Symptoms include shortness of breath, coughing, wheezing, etc. The diagnosis is made by an evaluation by a doctor as well as pulmonary function tests. There are treatments available. Smoking cessation is important to prevent further lung damage. ...Read moreSee 3 more doctor answers
Definately: Smoking is the number one risk factor for the development of emphysema. Other risks include family history, a genetic predisposition (such as Alpha one antitrypsin deficiency) and occupational exposure (usually related to dusts). If you have no desire to develop emphysema do not smoke. ...Read moreSee 1 more doctor answer
It IS the result...: Emphysema is one of the main results of cigarette smoking. Emphysema is the destruction of lung tissue from smoking. Cigarette smoking is the #1 cause of emphysema. That's why, you should quit asap. It definitely can cause emphysema (and a whole host of other bad stuff). ...Read moreSee 1 more doctor answer
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