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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
When living with a rare disorder, it is crucial to understand what is happening within your body. This not only allows you to recognize when your symptoms are about to […] The post Understanding my health became vital after my AIP diagnosis appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Hundreds of patients in Japan with unexplained abdominal pain go untested for acute hepatic porphyria (AHP), despite showing a number of the condition’s hallmark symptoms, a study suggests. Among those […] The post Many with unexplained abdominal pain go untested for AHP 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
Sometimes in patient advocacy, a great event means planning everything down to the minute: logistics, panel preparations, seating charts, and more. At other times, I find myself backstage with seven […] The post Teens with EPP shed light on what it’s like living with porphyria appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Sudden delusions and paranoia experienced by a 41-year-old woman without a psychiatric history were triggered by an undiagnosed case of acute intermittent porphyria (AIP), according to a case report. The […] The post Undiagnosed AIP triggers woman’s sudden psychiatric symptoms appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
Note: This column describes the author’s own experiences with various mental health medications. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a […] The post Mental health management can be complicated with AIP appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for 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 longer delay in the diagnosis of erythropoietic protoporphyria (EPP) is associated with a negative impact on patients’ lives, particularly at the emotional level, according to a recent study in the […] The post Longer delay in diagnosis negatively impacts EPP patients’ lives: Study appeared first on Porphyria News.| Porphyria News – The Web's Daily Resource for Porphyria News
A combined liver and kidney transplant successfully treated a woman with severe AIP, according to a case report.| Porphyria News
The cases of six women with acute intermittent porphyria, five of whom were misdiagnosed, show the challenges of getting an AIP diagnosis.| Porphyria News
Acute hepatic porphyria carriers may show subtle disease signs in the absence of acute attacks, and should be watched, per a study.| Porphyria News
Columnist Kalyn Shelton explains why she suspects that her mental health medications played a role in her recent porphyria attack.| Porphyria News
Members of the Global Porphyria Advocacy Coalition are set to raise awareness about porphyria with the theme, “Think Porphyria."| 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
