Erythropoietic Protoporphyria: Insights into its nature, triggers, indications, and further details
Erythropoietic Protoporphyria (EPP) is a rare inherited disorder that causes skin sensitivity to sunlight. The condition, which affects about 1 in 74,300 individuals, is characterised by symptoms such as severe pain during sunlight exposure, skin sensitivity, itching, tingling, burning sensations, skin swelling, rash, persistent skin inflammation, and rarely skin blistering or discoloration.
The primary management strategy for EPP is strict sun avoidance, as sunlight triggers symptoms. Patients should use broad-spectrum sunscreens containing zinc oxide or titanium dioxide, wear protective clothing, hats, and sunglasses, and seek shade or avoid direct sunlight, even on cloudy days.
Pharmacological interventions play a crucial role in managing EPP. Historically, oral beta-carotene has been used, but its efficacy is debated. Afromelanotide (Scenesse), a subcutaneously implanted synthetic peptide licensed in the US and EU, increases skin pigmentation, thus reducing photosensitivity. Bitopertin, an investigational agent, has shown promising potential in reducing photosensitivity in EPP and is being actively researched for this indication. Cysteamine is sometimes used off-label to reduce protoporphyrin levels.
Patients with EPP are at risk for protoporphyrin-induced liver disease. Regular monitoring of liver function is crucial, and severe cases may require liver transplantation.
Patients must limit sun exposure, including exposure through windows, and use physical barriers to block light. Routine blood tests (including liver enzymes) should be performed to detect early signs of liver dysfunction. Acute photosensitivity can cause severe pain; pain management strategies should be discussed with a healthcare provider. Genetic counseling is recommended for affected individuals and family members. Certain drugs, such as barbiturates and hormonal contraceptives, can exacerbate porphyria symptoms and should be avoided unless deemed safe by a specialist.
Aggressive skin protection is essential. Patients should use clothing with high ultraviolet protection factor (UPF), seek shade, and apply sunscreens even in short-term, incidental exposure situations.
Early diagnosis of EPP is crucial, as symptoms tend to appear soon after birth. People with EPP may benefit from vitamin D supplements, as they avoid sunlight.
EPP is an autosomal recessive disorder, meaning that both biological parents of a person with EPP each carry one copy of the mutated FECH gene but display no symptoms of the condition. Gallstones are common among people with EPP, with about 90% developing gallstones. A buildup of protoporphyrin can contribute to the formation of gallstones and an increased risk of liver damage in individuals with EPP.
Clinical trials may evaluate additional therapies, including heme arginate (for acute attacks) or liver-directed therapies if significant liver involvement occurs. Patients may consider participation in clinical trials for novel therapies such as bitopertin, which is currently under investigation for EPP.
In summary, EPP management involves strict sun avoidance, pharmacological interventions, liver monitoring, and aggressive skin protection. Afromelanotide, bitopertin, cysteamine, and liver-directed therapies are among the treatments under investigation. Consultation with a porphyria specialist is recommended for optimal care.
- Dermatology plays a significant role in managing EPP, as strict sun avoidance and aggressive skin protection are essential to prevent symptoms.
- In addition to dermatology, genetics also plays a part in EPP, as it is an autosomal recessive disorder caused by a mutated FECH gene.
- Mental health is important for EPP patients, as acute photosensitivity can cause severe pain, and pain management strategies should be discussed with a healthcare provider.
- Health and wellness, including other genetic factors, can affect the risk of chronic diseases associated with EPP, such as protoporphyrin-induced liver disease.
- Neurological disorders may also be a concern for EPP patients, as gallstones, a common complication, can contribute to an increased risk of liver damage and neurological complications.
