Porphyria News

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High sugar, fat diet by AIP patients leads to metabolic problems: Study

1 week ago | porphyrianews.com | Marisa Wexler |Kalyn N Shelton |Steve Bryson |Marta C. Figueiredo

People with acute intermittent porphyria (AIP) often consume large amounts of simple sugars and fats, which may contribute to metabolic problems, such as being overweight or having high levels of bad cholesterol in their blood, a study reports. “Our study provided valuable insights into the metabolic aspects of AIP, revealing improper dietary habits that may predispose patients to additional pathologies [health problems],” the researchers wrote.
AHP diagnosed in young woman with brain swelling, nerve damage

2 weeks ago | porphyrianews.com | Margarida Maia |Andrea Lobo

A woman in her 20s was diagnosed with acute hepatic porphyria (AHP) after experiencing seizures and visual hallucinations due to a condition known as PRES, or unilateral posterior reversible encephalopathy syndrome — which causes swelling in one side of the brain — and muscle weakness due to neuropathy, or nerve damage, according to a case study.
Rare variegate porphyria shows neurodevelopmental delay, skin lesions

3 weeks ago | porphyrianews.com | Andrea Lobo |Patricia Inacio |Lindsey Shapiro |Marisa Wexler

Two siblings with a rare form of variegate porphyria (VP) who had skin lesions caused by light or sun exposure and neurodevelopmental symptoms were described in a study from Germany that also reviewed all the other cases in the literature until 2023. Both had epileptic seizures, developmental delays, and intellectual disability caused by a homozygous mutation in the PPOX gene, meaning the mutation was present in both copies.
What does raising a child with a rare disease look like?

3 weeks ago | porphyrianews.com | Kristen Wheeden |Steve Bryson |Margarida Maia |Marisa Wexler

Everyone seems so very excited for spring. The birds are chirping, tree buds are sprouting, and the sun hangs hotter and higher in the sky for longer stretches each day. Well, almost everyone. Right on cue, this is when Shadow Jumpers — as we lovingly call our people living with erythropoietic protoporphyria (EPP) — must make extra efforts to dodge the sun. The launch of spring has them bracing for the inevitable pain they’ll experience.
Discovering my porphyria triggers was a long journey

4 weeks ago | porphyrianews.com | Kalyn N Shelton |Patricia Inacio |Marisa Wexler |Andrea Lobo

Note: This column describes the author’s own experiences with etonogestrel implantation. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. My arm was laid out to the side as my then fiancé and now husband, Daniel, held my hand. “Are you ready?” my doctor asked before sticking the numbing needle in my arm. “Yes,” I replied while clenching Daniel’s hand.
Scenesse improves life quality in EPP adults: Real-world study

1 month ago | porphyrianews.com | Steve Bryson |Andrea Lobo |Margarida Maia

Short- and long-term treatment with Scenesse (afamelanotide) improves life quality in adults with erythropoietic protoporphyria (EPP), according to the largest real-world study of its kind. The therapy’s safety profile among those over 70 was consistent with that of the overall patient population, with nausea, cold-like symptoms, headache, and fatigue being among the most common side effects reported, researchers said.
Free genetic testing for AHP offered by Alnylam Act in US, Canada

1 month ago | porphyrianews.com | Andrea Lobo |Margarida Maia |Steve Bryson |Marisa Wexler

Alnylam Act, a sponsored genetic testing program developed by Alnylam Pharmaceuticals and now under the management of Preventiongenetics, is offering free services for certain people in the U.S. and Canada suspected of having acute hepatic porphyria (AHP). Through the program, genetic testing and counseling are offered at no charge to individuals in North America who meet specific eligibility criteria.
The terrifying AIP attack that caused temporary paralysis

1 month ago | porphyrianews.com | Kalyn N Shelton |Marisa Wexler |Patricia Inacio

I was a few weeks into a common cold, and late one evening I needed to lie down. My husband, Daniel, was already in the bed, so I made myself comfortable beside him by lying flat on my back, placing my hands on my chest and interlocking my fingers. I lay there awhile and tried getting up once Daniel made his way to our living room. However, I couldn’t move. At first, I didn’t think too much about it, but I became concerned a few minutes later when I realized that I couldn’t move my entire body.
Liver abnormalities are common in people with porphyrias EPP, XLP

1 month ago | porphyrianews.com | Patricia Inacio |Lindsey Shapiro |Steve Bryson |Claire Richmond

Liver abnormalities are common among people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), a large U.S. study suggests. While the abnormalities were mild in most cases, in a small fraction of patients they may be tied to a risk of worse outcomes. In fact, at least half the reported deaths were associated with liver disease.
Fighting for change on Capitol Hill

1 month ago | porphyrianews.com | Kristen Wheeden |Andrea Lobo

Last week was a rallying cry for rare disease patients, their families, and other advocates to make their voices heard. I spent time on Capitol Hill in Washington, D.C., standing alongside fellow advocates for a week of activity centered on Friday’s Rare Disease Day. Representing the United Porphyrias Association (UPA) as part of the EveryLife Foundation for Rare Diseases, I joined others in raising awareness and pushing for progress.