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PORT-77, an oral small molecule therapy being developed to treat erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), by Gondolabio through its affiliate Portal Therapeutics, has been granted both orphan drug […] The post PORT-77 gets FDA orphan drug, fast track designations for EPP and XLP appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Variegate porphyria skin damage is worsened by impaired formation of protective outer skin layers, a cell study showed.| Porphyria News
When my son Brady was diagnosed with erythropoietic protoporphyria in 2009, I had no idea that my extended family would grow to include so many people affected by all types […] The post Celebrating a turning point for congenital erythropoietic porphyria appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
A man with genetically confirmed porphyria was treated for blocked heart arteries using stents — thin, mesh-like tubes — that slowly release medication inside the coronary arteries supplying the heart […] The post Drug-eluting stents safely used in man with porphyria, heart disease appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Surgery can trigger an acute intermittent porphyria attack, which may be mistaken for other complications, as a woman's case showed.| Porphyria News
Adults and adolescents with erythropoietic protoporphyria (EPP) reported a significant detrimental impact of the disease on their health-related quality of life (HRQoL), as well as their social and psychosocial well-being, […] The post EPP takes major toll on patient quality of life: Study participants appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Porphyria attacks can be triggered by a number of factors, which may vary depending on the individual and the type of porphyria. For instance, people with acute hepatic porphyria (AHP) […] The post My biggest porphyria triggers as someone living with AIP appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
A combination of skin and liver problems in young people may be indicative of an EPP diagnosis, according to a case report.| Porphyria News
The case of an infant thought to have an extremely rare form of prophyria, called harderoporphyria, was described in a recent report.| Porphyria News
Givlaari (givosiran) is an RNA-interference therapy by Alnylam Pharmaceuticals to treat adults with acute hepatic porphyria.| Porphyria News
It's important to understand the interplay between porphyria and stress, says columnist Claire Richmond. Even good stress can be problematic.| Porphyria News
Porphyrias are a group of genetic disorders that disrupt steps in the body's process for making heme, essential for transporting oxygen throughout the body.| Porphyria News
For a woman with erythropoietic protoporphyria (EPP) in China, the first symptoms did not involve the skin, as is typical, but rather the liver, drawing doctors’ attention to an unusual […] The post Rare EPP case starts with symptoms in liver, not skin, report finds appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
The case of a woman, 43, with variegate porphyria who developed acute psychosis highlights a less common symptom that can occur in patients.| Porphyria News
Researchers said light-sensitive or fragile skin may point to a primary genetic porphyria in children with developmental delays and epilepsy.| Porphyria News
A real-world study analyzed the medical records of EPP and XLP patients in the U.S. who waited about three years for a porphyria diagnosis.| Porphyria News
Givlaari reduced porphyria attacks, improved quality of life in patients with AHP, according to an expanded access program in Japan.| Porphyria News
Alnylam Act, a free genetic testing program, is now offering its services to certain patients in the U.S. and Canada suspected of having AHP.| Porphyria News
COVID-19 triggered an attack of acute intermittent porphyria (AIP) in a 31-year-old woman, according to a report in Japan.| Porphyria News
An AIP diagnosis should be weighed with vomiting, stomach pain, high blood pressure, low sodium, or constipation, the researchers said.| Porphyria News
A combined liver and kidney transplant successfully treated a woman with severe AIP, according to a case report.| Porphyria News
Columnist Kalyn Shelton explains why she suspects that her mental health medications played a role in her recent porphyria attack.| Porphyria News
Andrea Lobo is a science writer for Porphyria News with a PhD in cell biology/neurosciences. She covers the latest news and information on a variety of porphyria topics.| Porphyria News
Marisa Wexler is a senior science writer for Porphyria News with an MS in cellular and molecular pathology. She covers the latest news and information on a variety of porphyria topics.| Porphyria News
Using an FDA database, scientists compiled a list of 52 medications, mostly those for infections, that may trigger porphyria flares.| Porphyria News
For columnist Kalyn Shelton, symptoms of porphyria can include anxiety, depression, mood swings, and hallucinations.| Porphyria News
Columnist Claire Richmond extends a heartfelt thank-you to Desiree Lyon for her four decades of service to the porphyria community.| Porphyria News
A 34-year-old woman with PCT had previously undiagnosed hereditary hemochromatosis, which played a key role in the condition's development.| Porphyria News
Givlaari safely led to a complete resolution of annual attacks in people with AHP, real-world data from a case series study in Italy shows.| Porphyria News
Clinicians use a genetic test, or examine the levels of porphyrins found in an individual's blood, urine, or stool to make a diagnosis of porphyria.| Porphyria News
Patricia Inacio is a science writer for Porphyria News with a PhD in cell biology. She covers the latest news and information on a variety of porphyria topics.| Porphyria News
Read about acute and cutaneous porphyrias, the two main classification for this group of genetic disorders caused by problems in heme production.| Porphyria News
Symptoms of cutaneous porphyria largely affect the skin, while those of acute porphyria may include the nervous system. Learn more about symptoms here.| Porphyria News
Children with porphyria need to have the community advocating for their mental health, columnist Kristen Wheeden writes.| Porphyria News
Vitamin D may prevent osteoporosis and improve bone health in people with EPP, according to a study from the Netherlands.| Porphyria News
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The case showcases the need to consider AIP when diagnosing acute nerve damage as Parsonage-Turner syndrome, the report's researchers said.| Porphyria News
Columnist Kristen Wheeden had to share her colleague's story at a rare disease summit when she was hospitalized due to a porphyria attack.| Porphyria News
Connecting with her community at the PorphyriaPalooza provided columnist Kalyn Shelton with many opportunities for giving hugs.| Porphyria News
UPA received a five-year Chan Zuckerberg Initiative grant to advance progress in porphyria diagnosis, research, and treatment.| Porphyria News
Columnist Kristen Wheeden is grateful for the opportunity to connect with her community at the recent PorphyriaPalooza event in Chicago.| Porphyria News
Columnist Kalyn Shelton, along with her husband and mother, recently took a trip to Chicago to connect with the porphyria community.| Porphyria News
Porphyria comprises a group of genetic disorders caused by disruptions in the heme production cycle.| Porphyria News
