Spotlight Porphyria
Welcome to Spotlight Porphyria where we feature all things porphyria! Including:
Porphyria Voices shares experiences, insights, and advice from the porphyria community.
What's UP Doc? Where porphyria experts take your questions.
Summing UP explains the latest research in easy-to-understand summaries
Meet your experts and advocates where we meet the people changing the world for porphyria
…and more!
Join us to never miss a feature.
Search the blog
Mental Health in the Porphyrias
This study involved focus groups with porphyria patients to explore the emotional and psychological challenges they face. Participants discussed their lived experiences, shared coping strategies, and offered recommendations for additional support to improve their quality of life.
Using AI to Diagnose Porphyria
People with symptomatic acute hepatic porphyria (AHP- includes AIP, VP and HCP) often wait about 15 years to get diagnosed, which is too long. This research used information from electronic health records (EHR) and machine learning (ML) to see if they could find people with AHP faster.
The EPP Impact Questionnaire
Having a standardized questionnaire tool is important to evaluate and demonstrate the effectiveness and impact of new treatments for EPP. Regulators like the FDA consider improvements in quality of life, along with other factors, when deciding whether to approve new treatments.
This research developed a questionnaire called the EPP Impact Questionnaire or EPIQ.
Worldwide Patient Experience of Acute Porphyrias
Up to this point, most research that has been published about AHP has focused on symptoms and care during an acute attack. This research looks at the full burden of acute hepatic porphyrias (AHP, includes AIP, HCP and VP) on patients from around the world.
EPP/XLP Consensus Guidelines
This article provides guidelines for the diagnosis, treatment and management of erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP).
Acute hepatic porphyria and anaesthesia
Surgery and the use on anesthesia require special considerations for patients with acute hepatic porphyrias (AHP- includes AIP, VP and HCP). This article provides an overview* of precautions for the period before, during and after an operation (the ”perioperative period”) for patients with AHP.
EPP/XLP Liver Guidelines
Liver dysfunction is a rare but very real possibility for people with EPP and XLP. These guidelines provide recommendations for the diagnosis, monitoring and treatment of liver-related dysfunction in protoporphyrias (EPP and XLP).
Pregnancy Outcomes with Acute Porphyrias
This research used the Swedish Porphyria Registry to compare the pregnancy health risks and outcomes for women with an acute hepatic porphyria (“AHP”- includes AIP, VP and HCP) to women without porphyria.
Light-Related Skin Symptoms in EPP
This research describes some important features of EPP including prodromal (warning) symptoms, a priming effect from previous light exposure, and lack of visible symptoms among many patients.
Pain in Acute Hepatic Porphyrias
This article provides an overview of the different types of pain in acute hepatic porphyria (AIP, VP, HCP, ADP) and how they may be treated.
RNA interference therapy in AHP
This article provides an overview of the current state of research and knowledge about the use of givosiran for treating acute hepatic porphyria.