Friday, March 2, 2012

The Puzzle Has Been Solved

If you've been following this blog closely -- and you really should -- you know that I love these medical mysteries the NY Times Well Blog posts about once a month. This months was a mysterious case of abdominal pain with no clear or easy diagnosis. I had no clue -- but here's the answer: Acute intermittent porphyria.

Acute intermittent porphyria, or A.I.P., is one of a group of rare disorders, passed down through families, in which an important part of hemoglobin called heme is not made properly. Patients with A.I.P. suffer episodes of severe abdominal pain, constipation, hypertension and tachycardia that usually last several days. It can also be associated with nerve problems — numbness, tingling, even weakness — as well as psychiatric disorders. In between symptomatic episodes, patients can be completely normal.

This genetic disease is rare. In the United States, fewer than five people in 100,000 will have it. But the disease is made even more rare because most of the people who have inherited the genetic abnormality responsible for it will never have symptoms. The symptoms are usually triggered by medications or other environmental stimulation.

Read how the doctors figured it out here.

Have a great week-end! Jennifer

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