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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alpha-1 antitrypsin deficiency


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What are the chances of having alpha 1-antitrypsin deficiency and panniculitis?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis.[1] AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner.[2] Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.[1][3]
Last updated: 4/6/2016

Is there an association between alpha 1-antitrypsin deficiency and panniculitis?

Yes. In rare cases, alpha-1 antitrypsin deficiency 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.[2]

Journal articles which discuss the association between alpha 1-antitrypsin deficiency and panniculitis can be located through PubMed, a searchable database of medical literature. Click here to access a search of this topic.

Last updated: 6/25/2009

What are the chances of an individual with alpha 1-antitrypsin deficiency having panniculitis?

Panniculitis appears to be a very rare manifestation of alpha 1-antitrypsin deficiency. It was first described by physicians in France in 1972 and fewer than 100 cases have been reported in the medical literature since then.[4][5][6] To read an article which provides in-depth information about this aspect of alpha 1-antitrypsin deficiency, click here
Last updated: 6/25/2009

References
Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.