Management

Current management of EPP & XLP is centered on light avoidance1

Light avoidance remains the primary option for preventing and managing phototoxic symptoms2

Preventing and managing phototoxicity is key for patients living with these diseases, in addition to regular monitoring to identify and address other complications as they arise.3

The 2023 Guidelines for Management of EPP and XLP, developed by experts from the Prophyria Consortium of the Rare Diseases Clinical Research Network, provide management guidance for phototoxic symptoms. Options that are not recommended due to limited or no evidence of benefit are also summarized.3

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Select guideline-recommended strategies for managing phototoxicity3

Recommended

Recommended

  • Afamelanotide, an FDA-approved subcutaneous implant to increase skin pigmentation in adult patients with EPP
  • Sunlight avoidance
  • Opaque clothing
  • Broad-spectrum or tinted sunscreens (zinc oxide or titanium dioxide)
  • Window tinting for cars
Possible benefit

Possible benefit

  • Cold compresses and cooling devices may provide minor relief from phototoxic symptoms, although some patients report that both cold and heat worsen symptoms
  • Use of indoor lights with minimal blue light for patients with a sensitivity
Not helpful or recommended

Not helpful or recommended

  • Painkillers, including narcotics, acetaminophen, and nonsteroidal anti-inflammatory drugs (NSAIDs)
  • Anti-inflammatory medications like corticosteroids
  • Antihistamines
  • Non-broad-spectrum or nontinted sunscreens
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Light avoidance is key for managing phototoxicity but does not address PPIX accumulation or its systemic health effects.4

Management guidelines for non-cutaneous complications3

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Anemia icon

Anemia

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  • In EPP, iron supplementation may be considered for symptomatic iron deficiency and/or hemoglobin levels <10 g/dL and ferritin <10 ug/L3
  • In XLP, any iron deficiency should be treated with oral iron to a goal ferritin of 50-100 ug/L3
Vitamin D deficiency icon

Vitamin D deficiency

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  • Vitamin D deficiency should be supplemented as per population guidelines3
Prevention of liver disease icon

Prevention of liver disease

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  • Liver chemistries should be monitored at least yearly3
  • Patients should be immunized against hepatitis A and B3
  • Patients should be counseled to avoid excessive alcohol intake3
Anxiety and depression icon

Anxiety and depression

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  • Patients should receive the same screening for anxiety/depression as the general population3

Unmet needs remain in EPP & XLP5

  • No treatments for patients with XLP5
  • No treatments for pediatric patients with EPP or XLP3
  • No therapies that reduce the risk of potential serious hepatobiliary complications3,6
  • Significant patient burden remains due to light avoidance and other lifestyle modifications7,8
  • Ineffective treatment options for phototoxic pain, which is unresponsive to conventional analgesics3