Top 10 porphyria stories of 2023

Year's coverage included news about Givlaari, Scenesse, bitopertin

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by Andrea Lobo, PhD |

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Throughout 2023, Porphyria News Today has brought you coverage of the latest developments in scientific research and treatment for porphyria.

Here’s a  brief look at the 10 most-read articles we published last year. We hope our stories in 2023 helped to inform and improve the lives of those this dealing with porphyria.

No. 10 – ER screening program may help diagnose acute porphyria

Researchers in Germany developed a screening program to diagnose porphyria more effectively in emergency departments. It’s based on collecting blood and urine samples from all patients who require emergency care due to severe and persistent abdominal pain, along with training clinicians to recognize the potential signs of acute porphyrias.

Although all 68 people in this pilot study were negative for porphyria, the screening method was deemed feasible.

No. 9 – Long-term Givlaari treatment reduces porphyria attacks and hemin usage

Final three-year data from the Phase 3 ENVISION trial (NCT03338816) and its open-label extension showed that monthly treatment with Givlaari (givosiran) sustainably reduced the rate of porphyria attacks and hemin usage in patients with acute hepatic porphyria (AHP).

Treatment also improved patients’ physical and emotional quality of life.

No. 8 – AIP causes abdominal pain and SiADH in 31-year-old woman

A 31-year-old woman with abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SiADH) — a condition wherein excessive production of antidiuretic hormone reduces kidney function and leads to an imbalance of water and salts in the body — was ultimately found to have acute intermittent porphyria (AIP).

Although AIP is known to potentially cause SiADH, its rarity and lack of diagnosis made it harder for clinicians to identify it as a cause of the condition in this case.

No. 7 – AHP increases risk for kidney cancer, kidney disease in study

Researchers in Sweden found that people with AHP are at an increased risk of developing kidney cancer, chronic kidney disease, and high blood pressure. The risk was particularly high in people with biochemically active AIP, a  type of AHP where patients test positive for urinary porphobilinogen, the porphyrin that accumulates and causes AIP.

According to researchers, these findings highlight the need for improving care of long-term AHP complications, mainly kidney conditions, high blood pressure, and primary liver cancer.

No. 6 – Late AIP diagnosis, treatment leads to severe disability in woman

A 21-year-old woman in the U.K. developed several complications after remaining undiagnosed for more than a year. She had persistent abdominal pain, motor neuropathy, and neuropsychiatric symptoms.

After AIP was diagnosed, she received heme arginate to manage acute attacks and was later started on Givlaari, which eased her porphyria symptoms, but seemed to delay her neurological recovery. She also needed intensive physiotherapy to regain control of her muscles. Researchers said an early AIP diagnosis might have prevented significant disability in her case.

No. 5 – PCT may have triggered hemochromatosis in 77-year-old man

In the U.S., a 77-year-old man with porphyria cutanea tarda (PCT) ended up being diagnosed with hereditary hemochromatosis, a condition characterized by iron overload in several organs, such as the skin and liver, that can be associated with PCT.

His condition improved after his skin lesions were treated with antibiotic creams and he underwent regular therapeutic bloodletting to remove excess iron from his body. He was also told to avoid sunlight exposure. Researchers said PCT may be the first manifestation of hereditary hemochromatosis.

No. 4 – Scenesse can help reduce liver damage in people with EPP

Researchers in Switzerland found that Scenesse (afamelanotide), an implantable medication approved in the U.S. and Europe to protect people with erythropoietic protoporphyria (EPP) against light-related damage, could help reduce liver damage and improve its function in EPP patients.

In a study of 70 EPP patients, researchers observed that liver function tended to improve in those who received more Scenesse doses. They said more frequent Scenesse implants than those currently approved for EPP might be needed, particularly for patients at a higher risk of liver problems.

No. 3 – Bitopertin increases light tolerance in EPP patients

Preliminary data from a Phase 2 trial called BEACON (ACTRN12622000799752) showed that treatment with the oral therapy bitopertin increased sunlight tolerance and quality of life in EPP patients, while decreasing by more than 40% the mean levels of protoporphyrin IX (PPIX), the molecule that builds up to toxic levels in EPP and drives its symptoms.

The treatment was also found to be safe and well tolerated. No serious side effects, discontinuations, or dose reductions were reported.

No. 2 – Givlaari normalized AIP-related lab values, but woman’s severe attacks continued

Although monthly treatment with Givlaari normalized AIP-related lab values in a 47-year-old woman, she continued to have severe disease attacks. Her attacks caused severe abdominal pain, stabbing feelings in her limbs, vomiting, and photosensitivity, generally occurring around ovulation.

The woman eventually underwent a procedure to block the activity of some nerves responsible for detecting pain and other sensations in abdominal organs, which significantly eased her pain.

No. 1 – Givlaari linked to acute liver injury in woman with AIP

Researchers at the Wake Forest University School of Medicine in North Carolina, described the case of a 39-year-old woman with AIP who developed acute liver injury after being treated with Givlaari. She had episodes of abdominal pain, vomiting, and fatigue for most of her life, but started reporting severe fatigue and back pain after each monthly dose of Givlaari.

Lab tests indicated she had elevated levels of liver damage markers, which were thought to be caused by inflammation driven by treatment. When Givlaari was discontinued, markers of liver damage and inflammation returned to normal. Researchers said that although this is a rare side effect of Givlaari, patients on the therapy should be monitored for liver damage.


We hope to keep on serving as a reliable resource for the porphyria community during 2024. We wish all our readers a happy new year!