HUM-MOLGEN DIAGnostics/Clinical Research

July, 12 1999
Family with porphyria

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?

Lea Velsher, MD
Lakeridge Health Oshawa
1 Hospital Court
Oshawa, Ontario, Canada
L1G 2B9
fax: (905) 721-4757