DEAR DR. GOTT: I would appreciate any information you could give me about hepatic porphyria. I have it and would like to know about treatment.
DEAR READER: Porphyria is a rare, inherited neurodegenerative condition that results in a buildup of chemicals called porphyrins in the body. These are normal body chemicals. What isn’t normal is when they build up and affect the nervous system, the skin or both. The condition is from a disruption in the body’s production of heme, the nonprotein portion of hemoglobin that contains iron. We all have heme in our tissues, with the greatest amounts found in the red blood cells, liver and bone marrow. There are eight enzymes that convert porphyrins into heme. [Read more...]