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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alpha 1-antitrypsin deficiency


Other Names for this Disease
  • A1AT deficiency
  • AAT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
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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 is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.[1] Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream.[2] Because of a mutation in the SERPINA1 gene, some people have little or no AAT.[1][2] Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant.[2] This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.[1]
Last updated: 7/26/2011

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.[1]

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.[3][4][5] 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