Abstract
As variegate porphyria is an autosomal dominant condition Archie reasoned that informing family members of their possible propensity could avoid future episodes, through avoidance of triggering agents, as well as mitigate against potentially serious misdiagnoses. He therefore contacted family members and obtained urine or faecal samples, to trace transmission through the family. As a man convinced of the necessity of high response rates he was justifiably proud of the fact that samples were obtained from 152 of 153 living descendents of his maternal great grandfather. Indeed the relevant family tree, framed and hanging on the wall, was among the first items discussed when I visited him in Rhoose Farm House in 1985. In his report of the investigation of familial distribution of variegate porphyria tendency Archie calculated mortality rates among the maternal side of his family and, although very imprecisely estimated, a hint of excess …