Discussions By Condition: I cannot get a diagnosis.

shortness of breath/raised lesions

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: Anonymous
  • January 30, 2007
  • 07:37 PM

As a 27 year old white male, we cant seem to find a cause for a raised lesion on the trunk (non-tender) and shortness of breath.

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  • Medical Encyclopedia: Alpha-1 antitrypsin deficiencyURL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm Alternative names AAT deficiency Definition Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease.Causes, incidence, and risk factors Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known. However some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.Symptoms Shortness of breath with and without exertion Unintentional weight loss Wheezing Additional symptoms that may be associated with emphysema or cirrhosis include the following: Abnormal breathing pattern (exhalation takes more than twice as long as inspiration) Agitation Ankle, feet, and leg swelling Awakening from sleep not feeling rested Bloody, dark black or tarry bowel movements (melena) Breast development in males Confusion Daytime sleepiness Difficulty falling asleep or staying asleep (insomnia) Difficulty paying attention Dry mouth Excessive thirst Fatigue Fluctuating mood Headache Impaired concentration Impaired judgment Impotence Increased front-to-back diameter of the chest (barrel-shaped chest) Irritability or poor temper control Light-headedness or fainting while standing Memory loss Paleness Rapid heart rate when rising to a standing position Skin rash or lesion on the hands or feet, redness Slow, sluggish, lethargic movement Swollen abdomen or increased girth Vision abnormalities Vomiting blood Vomiting material that looks like coffee grounds Signs and tests A physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope may reveal wheezing, crackles, or decreased breath sounds. The following tests may also help with diagnosis:Arterial blood gases Serum alpha-1 antitrypsin level Chest x-ray Pulmonary function test Genetic testing Treatment Replacement (augmentation) therapy with the missing AAT protein is available. However, it is not known how effective this is once disease has developed or which people would benefit most. Certainly, quitting smoking is crucial.Other treatments include bronchodilators and prompt antibiotics for upper respiratory tract infections. Lung transplantation may be an option for those who develop end-stage lung disease. In addition, genetic testing of relatives may be recommended.Expectations (prognosis) Some people with this deficiency will not develop liver or lung disease. Emphysema and cirrhosis, however, are both progressive diseases that can kill.Complications Emphysema Cirrhosis Calling your health care provider Call your health care provider if you develop symptoms of alpha-1 antitrypsin deficiency.
    Anonymous 42789 Replies
    • January 31, 2007
    • 10:05 PM
    • 0
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