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. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: J Pediatr. 2018 Jul 2;202:320–323.e2. doi: 10.1016/j.jpeds.2018.06.001

Table 4.

Key Features of Erythropoietic Protoporphyria and X-Linked Protoporphyria

Key Features of EPP and XLP
SYMPTOMS AFTER SUN-EXPOSURE*

  • Burning, tingling, and itching of sun exposed skin

  • Redness and edema

  • Lifelong photosensitivity

LABORATORY TESTS
Diagnostic Testing

  • Increased free erythrocyte protoporphyrin levels

  • Identification of biallelic mutations in FECH or a gain-of-function mutation in ALAS2

Yearly Monitoring

  • Hepatic function

  • Protoporphyrin levels

  • Hematologic indices

  • Iron profile

  • Vitamin D levels

LONG TERM COMPLICATIONS

  • Advanced liver disease (~2–5%)

  • Vitamin D deficiency

  • Chronic skin changes
*

Symptoms may persist for several days after initial phototoxic reaction and can only be prevented by avoiding sun light