Table 3.

Principles of management of EPP and XLPP

• Protection from sun exposure or other strong light in the long ultraviolet to blue visible spectrum

• Patients (specifically those with naturally darker complexions) capable of some sun tolerance may develop sun tans through gradually increased sun exposure in spring/summer

• β-Carotene reported to have modest benefits in some patients   Patients must be carotenemic for benefit; yellow complexion is reported to be undesirable

• Prevent cholestasis/cholestatic hepatitis/liver injury   Recommend HAV/HBV immunizations   Limit alcohol intake (men: two drinks/day; women: one drink/day)   Avoid illicit drug consumption or supplements (body-building, estrogens) that may lead to cholestasis

• Low dose vitamin D3 therapy indicated as low levels of 25-(OH)vitamin D are common in EPP/XLPP due to sun avoidance

• Regular iron status assessment or trial iron replacement therapy   Replacement therapy should be undertaken with care and close monitoring of symptoms and levels of PP in plasma and red blood cells (RBCs)

• Regular assessment of liver and gallbladder function   Abdominal ultrasound and liver tests starting at age 18 (earlier if symptoms are present); tests performed annually thereafter

• Consider plasmapheresis, RBC exchange, intravenous heme therapy for acute hepatic decompensation

• Patients with severe disease and hepatic decompensation may require bone marrow transplantation and/or liver transplantation

• Afamelanotide implantation has demonstrated therapeutic benefit (pursue in countries where approved and available)

Note: Clinical management strategies for effective management of both EPP and XLPP are laid out.

Abbreviations: PP, protoporphyrin; EPP, erythropoietic protoporphyria; XLPP, X-linked protoporphyria; HBV, hepatitis B virus; HAV, hepatitis A virus.