Porphyria has been difficult to recognize clinically because of its confusing manifestations. In the most common form of the disease, acute intermittent porphyria, the diagnosis is not readily made because specific clinical findings are lacking. In the rare forms of the disease—porphyria cutanea tarda, congenital porphyria, and the various forms of protoporphyria—cutaneous findings and photosensitivity are distinctive and afford the physician a means of early recognition of the problem.
In porphyria cutanea tarda it has long been recognized that frequently the patient may have an associated hepatic cirrhosis, at times compounded by excessive ingestion of alcohol. Diabetes mellitus sometimes is present. Standard therapy has been the use of a diet high in protein and carbohydrate and low in fat. With this regimen, some decrease in photosensitivity, blistering, and friability of the skin has occurred. More recently, repeated phlebotomy has gained favor as the primary treatment.
Bourke and colleagues1 in 1966