Porphyria News

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Articles

Givlaari safe, effective for acute hepatic porphyria patients: Study

1 week ago | porphyrianews.com | Andrea Lobo

Givlaari (givosiran) safely led to reductions in porphyria attacks and improved the quality of life of people with acute hepatic porphyria (AHP) in Japan in an expanded access program, according to newly shared results. The researchers noted that earlier trial data had “indicated that [Givlaari] may be an important treatment option for patients with AHP” — findings that the team suggested are substantiated by these results.
For Global Porphyria Day, we asked patients to describe their pain

1 week ago | porphyrianews.com | Kristen Wheeden

The United Porphyrias Association (UPA), where I serve as president, recently asked our community to do something more raw and vulnerable than ever before. For Global Porphyria Day on May 18, we asked: “What does porphyria pain feel like?”And you answered. Goodness, did you answer. It wrenched at my heart as I thought of our community, including my son Brady, who lives with erythropoietic protoporphyria.
Porphyria Awareness Week and Global Porphyria Day

1 month ago | porphyrianews.com | Marisa Wexler

The seven-day Porphyria Awareness Week campaign kicks off May 12 to spread the word about porphyria and culminates with Global Porphyria Day on May 18, a Sunday. The theme of this year’s observance is “Think Porphyria,” according to the American Porphyria Foundation, which is joining forces with other organizations in the Global Porphyria Advocacy Coalition to raise awareness about the disease.
Porphyria warriors: Gone too soon, but not forgotten

1 month ago | porphyrianews.com | Kristen Wheeden

Sometimes hope feels heavy. In the past several months, the porphyria community lost several beautiful souls. They were different in age, type of porphyria, and geography, but all were taken too soon. As I sit at my desk at the United Porphyrias Association office (where I serve as president), looking at the bulletin board behind my computer where I keep pictures of our fallen members, their faces stare back at me. Alongside too many others. I know their names. I know their stories.
Acute hepatic porphyria prevalence, symptoms more common in women

1 month ago | porphyrianews.com | Andrea Lobo

Acute hepatic porphyria (AHP) is more commonly seen in women in Denmark, with acute intermittent porphyria (AIP) the the most frequent subtype. That’s according to a recent study that also found that patients with high levels of porphobilinogen, a porphyrin precursor that builds up to toxic levels in AHP patients, in the urine were more likely to develop AHP symptoms, but not to be hospitalized or require treatment. “This study provides information on the Danish population of patients with AHP.
High sugar, fat diet by AIP patients leads to metabolic problems: Study

1 month 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 months 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

2 months 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?

2 months 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

2 months 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.