July, 12 1999
I have a family in my practice with a suspected diagnosis of variegate porphyria. The proband has a history of unexplained abdominal pain and mild photosensitivity. During a mild attake urinary PBG was mildly elevated. Her Uro-I-Synthetase levels were normal. Her fecal stool porphyrins were normal (collected once, when she was feeling well). Hereditary coproporhyria is also in our differential.
This woman's mother has a history of cutaneous photosensitivity and intolerance of hormone replacement. There are three cousins (two are sibs of each other, and the third is a different uncle's son) who have been diagnosed with inflammatory bowel disease.
Is there anyone who is doing any DNA studies on Variegate Porphyria? Any suggestions re: a work-up for this woman?