Friday, February 13, 2009

Serpin

A 40 year old Caucasian man presents with dyspnea, productive cough, and wheeze. He has no known history of pulmonary diseases. He does not take any medications, has no allergies, and does not smoke, drink, or do any drugs.

He is adopted so he does not know his family history. He gets tearful when he says this, and you find out that his parents abandoned him in the hospital when he was diagnosed with neonatal hepatitis with cholestasis. He was once told as an adult he has cirrhosis. On review of systems, he notes a new hot painful red nodule on his thigh.

CXR shows predominantly basilar hyperlucency so a CT is done showing the following:

Challenge: What are you worried about?

Image shown under Creative Commons Attribution 2.0 License.

1 comment:

Craig Chen said...

Serpin

This is alpha-1 antitrypsin deficiency. The deficient enzyme is an inhibitor of elastase and part of a family of serine protease inhibitors or serpins. This disease affects the lungs (emphysema), liver (cirrhosis or neonatal hepatitis), and skin (necrotizing panniculitis). Diagnosis is by serum alpha antitrypsin levels. The CT image shows emphysema and bullae in the lower lobes.

Sources: UpToDate; Wikipedia.