PORPHYRIA DIAGNOSIS - PROBLEMS AND PITFALLS

Sylvia S. Bottomley

Department of Medicine, Hematology-Oncology Section, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

The porphyrias are uncommon so that general physicians as well as specialists rarely acquire familiarity with these disorders. Moreover, in recent times minimal teaching about them occurs in United States medical schools, residencies and fellowships. Thus it is not surprising that those of us more focused on porphyrias encounter the problems of over-diagnosis, misdiagnosis and under-diagnosis. To some extent, misconceptions also surface among patients who surf the web.

This presentation will review the experience with referrals and diagnosis of the various porphyrias in Oklahoma. The data indicate that over-diagnosis and misdiagnosis, with occasional incorrect treatment, have been more common than under-diagnosis. Key factors leading to the former were: borderline test data were over-interpreted, most relevant tests for specific porphyrias were not obtained, or tests were not performed accurately. A diagnosis was mainly overlooked when not thought of. This experience may be mirrored by that of other colleagues and would provide a basis for organizing a referral site with expertise in porphyrias in at least the majority if not in each of the United States as well as for fostering better physician education.