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  • Q&A with Australian Health Practitioners

    What diseases is alpha-1 antitrypsin deficiency associated with?

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    Dr Tom Xinyi Zhou

    Gastroenterologist

    Dr Tom Zhou is a specialist Gastroenterologtist. His specialist interests include Endoscopy, Colonosocopy, Liver diseases and Colon cancer screening. Dr Tom Zhou completed his Medical … View Profile

    Alpha-1-antitrypsin normally cause lung disease and liver disease, very rarely skin disease.

    In lung disease it usually leads to emphysema, and lung disease is a common cause of death in severe alpha-1-antitrypsin deficiency.

    In Liver disease it can cause hepatitis and liver cirrhosis. In certain types of mutations and severe alpha-1-antitrypsin deficiency hepatitis and cirrhosis can happen in young children.

    In Skin disease alph-1-antitrypsin deficiency can cause inflammatory lesions in the skin and subcutaneous tissue.

    Progression of the disease is quiet variable, it depends on severity and type of mutation involved. Many patients reach adulthood with mild disease, others can develop bad complications in their childhood.

    If you are concerned you should consult your doctor.

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