The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

Inherited genetic late‐onset erythropoietic protoporphyria: A systematic review of the literature

“…In addition, patients with IGLO EPP were considerably older (age > 18 years) than the median age of 1-6 years reported for earlyonset EPP. 21,22 The late occurrence is at least partly explained by the subtle nature of the symptoms and the high and unusual solar exposure required to illicit a photosensitive response in some cases, as demonstrated by our index patient. The delay in diagnosis, although considerable (6 years), was shorter than reported for early-onset EPP where the median delay period is 10-20 years.…”

Erythropoietic Protoporphyria in a Japanese Population

“…It was shown that the late-onset EPP patients developed photosensitivity after a strong sun exposure in a tropical climate in middle age, despite not experiencing any symptoms while being in Northern Europe, where they were exposed only to weak sunlight (30,31). We have also encountered a case in which photosensitivity initially appeared at 13 years of age in a Japanese patient, despite the fact that the patient had fluorocytes, an increased PP level and a FECH gene mutation detected when she was 7 years old (26). In this Japanese patient, we speculate that avoiding sun exposure may have delayed the onset of EPP.…”

“…Although patients are symptomatic in early childhood, there was a delay in the diagnosis, with many patients going undiagnosed or misdiagnosed for several years or even decades. Similarly, the median age at the diagosis was 15 years in Japanese EPP patients (26). Male patients with EPP were reported to have significantly higher PP levels than female patients in the United Kingdom, Sweden and North America (14,16,20).…”

“…Male patients with EPP were reported to have significantly higher PP levels than female patients in the United Kingdom, Sweden and North America (14,16,20). However, there was no significant difference in the PP levels between men and women among the Japanese patients (26). The incidence of cholelithiasis in EPP patients is reported to be as high as 20% and may occur at a young age (4,27).…”

“…Of the 48 papers reviewed, 43 were written in Japanese and 5 in English (21)(22)(23)(24)(25). The median age at onset was 6 years (range: 1-25 years; n = 72) (26). Surprisingly, approximately 20% of all patients were recognized as having symptoms of EPP after 10 years of age.…”