Erythropoietic protoporphyria with antinuclear antibody positivity: Avoiding misdiagnosis of systemic lupus erythematosus

A young eunuchoid man was referred to our hospital with suspected erythropo ietic protoporphyria. Serum antinuclear antibody (ANA) was found to be posi tive immediately after the porphyria attack and disappeared 30 days later M any authors have mentioned the coexistence of systemic lupus erythematosus (SLE) and porphyria. As these two disorders have similar clinical features, the clinician must be alert and use strict diagnostic criteria in determin ing the presence of SLE with porphyria. In the past, elevation of ANA was r eported in the cases of acute intermittent porphyria. However, there have b een no reports in the cases of erythropoietic protoporphyria. In addition, the patient was found to have hypogonadotropic hypogonadism consistent with Kallmann's syndrome. To our knowledge, this report is the first case showi ng the coexistence of Kallmann's syndrome and erythropoietic protoporphyria . As yet, the clinical importance of this association remains unknown.