News

A doctor remembers Charlie, an Alpha with liver disease

Great Falls (Montana) Tribune
By Dan Gold, MD

Charlie was a friend of mine. He was gregarious, funny and gifted, and I first met him at a church retreat where he and his wife led music. I was often teased by Charlie, because he was afraid of doctors and often said he never went for checkups.

After medical school, I ended up working in a residency program in Charlie’s city. It was after residency that I learned that Charlie was deathly sick. He had been diagnosed with Alpha-1 Antitrypsin Deficiciency, or AAT, and was awaiting a liver transplant.

Upon hearing this news, I re-established contact with Charlie, and I reviewed the disease to see if anything new was available to these patients.

AAT was first described in the ‘60s and is a common genetic disorder affecting about one in 3,000 people. More commonly found in the white population, the disease results when a genetic deficiency causes the liver to produce a faulty protein, alpha-1 antitrypsin.

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