Porphyria

Diagnosis

Diagnosing porphyria can be challenging as its symptoms often resemble those of other common diseases, and since it’s a rare condition, it requires specific lab tests for confirmation. If porphyria is suspected, healthcare providers typically conduct a series of tests, including blood, urine, and stool tests, to measure levels of porphyrins and their precursors. These tests help identify the specific type of porphyria. Additionally, genetic testing of a blood sample is utilized for a more precise diagnosis, particularly useful if there is a known family history of the condition. Consulting with a genetic counselor is advised to understand the implications of genetic testing and assess the risk of porphyria for potential offspring and other family members, who may also benefit from testing and counseling.

Treatment

Treatment for porphyria typically involves medications to alleviate symptoms and avoiding triggers such as alcohol. The specific treatment plan is tailored to the type of porphyria and the individual’s symptoms.

• Acute porphyrias: For adults with acute hepatic porphyria, including acute intermittent porphyria, Givosiran, a monthly shot, is available to mitigate the frequency of attacks by targeting liver enzyme deficiencies related to heme production.

In most cases of acute porphyria, treatment medications include administering glucose-containing fluids either intravenously or orally for adequate carbohydrate intake and injections of hemin to reduce porphyrin production. These treatments reduce the quantity of porphyrins or substances that lead to the formation of porphyrins originating from the liver.

Generally, treatment involves swiftly addressing symptoms and averting complications. Some may require hospitalization to manage severe symptoms like pain, vomiting, dehydration, or breathing difficulties.

• Cutaneous porphyrias: For erythropoietic protoporphyria, high doses of beta carotene are often prescribed. Other treatment options include the use of afamelanotide, a medication enhancing melanin production in the skin to shield it from sunlight and extend tolerance to sun exposure without triggering painful skin reactions.

Generally, treatment for cutaneous porphyrias primarily revolves around minimizing exposure to triggers such as sunlight and reducing the levels of porphyrins in the body to alleviate symptoms.
To reduce porphyrin levels, these may be considered:

• • Undergoing therapeutic phlebotomy, or regular blood draws to decrease iron levels.
  • Taking medications like hydroxychloroquine. This may be prescribed in individuals who cannot undergo phlebotomy. This medication aids in absorbing excess porphyrins and expediting their elimination from the body.
  • To counteract vitamin D deficiencies resulting from sunlight avoidance, dietary supplements may be recommended.
• Avoiding triggers: To manage porphyria effectively, it is crucial to avoid triggers that could lead to acute attacks. This includes minimizing sun exposure by wearing protective clothing and using sunscreen. At least SPF 30 for brief exposure and SPF 50 for longer durations is recommended. Installing window filters indoors can also help prevent flare-ups.

Other strategies include:

• • Steer clear of heavy drinking, smoking, and illicit or recreational drug usage
  • Discuss premenstrual attack prevention methods with the healthcare provider.
  • Steer clear of medications known to cause acute attacks
  • Promptly treating infections
  • Managing stress
  • Avoid fasting, and extreme diets