Claire Richmond

Founder, This Porphyria Life and Columnist at Porphyria News

Writes about acute #Porphyria, #Disability and #InvisibleIllness. #RareDisease #AbleismExists 🏳️‍🌈Read the latest ⤵️

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Articles

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.
Alcohol use, hepatitis C trigger porphyria cutanea tarda in man, 59

2 months ago | porphyrianews.com | Margarida Maia |Claire Richmond |Andrea Lobo |Steve Bryson

Heavy alcohol use and hepatitis C, a viral infection that can cause damage to the liver, may have triggered porphyria cutanea tarda, a common form of porphyria that manifests as painful lesions on sun-exposed skin areas, usually in late adulthood, in a 59-year-old man in Indianapolis. “The distinctive [skin] pattern and history of patients with porphyria cutanea tarda can aid in the diagnosis of liver [disease mechanisms] and facilitate linkage to treatment,” Daniel S.
Newborn boy diagnosed with rare case of ALAD-deficient porphyria

Jan 8, 2025 | porphyrianews.com | Andrea Lobo |Claire Richmond |Kristen Wheeden |Steve Bryson

A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an extremely rare type of porphyria.
Woman's porphyria triggered by undiagnosed hemochromatosis: Report

Dec 4, 2024 | porphyrianews.com | Andrea Lobo |Claire Richmond |Steve Bryson |Vanda Pinto

Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT), according to a case report. The woman was treated with therapeutic phlebotomy, or bloodletting, to remove excess iron from the blood, which significantly eased her symptoms. Hereditary hemochromatosis is a disorder marked by iron overload, particularly in the liver.
GI problems, red urine indicate acute hepatic porphyria

Nov 20, 2024 | porphyrianews.com | Patricia Inacio |Esteban Cerezo |Claire Richmond |Andrea Lobo

Abdominal pain accompanied by nausea and vomiting, and a red-brownish urine could be indicative of acute hepatic porphyria (AHP), a case report suggests.
Givlaari found safe, effective for up to 4 years in AIP patients: Study

Oct 16, 2024 | porphyrianews.com | Andrea Lobo |Patricia Inacio |Claire Richmond

Long-term use of the approved therapy Givlaari (givosiran) safely led to sustained reductions in porphyria attacks, and in the need for medications to prevent such attacks, in people with acute intermittent porphyria (AIP). That’s according to new data from an open-label extension study that assessed the safety and effectiveness of the treatment’s use for up to four years — the “longest follow-up of patients treated with [Givlaari] reported to date,” according to the researchers.
Nerve damage marker, NfL, levels high with acute porphyria attacks

Jul 17, 2024 | porphyrianews.com | Andrea Lobo |Steve Bryson |Margarida Maia |Claire Richmond

Blood levels of neurofilament light (NfL), a marker of nerve cell damage, are 68 times higher during an acute attack in people with acute hepatic porphyria (AHP) than the levels seen in healthy adults, a recent study reported. NfL levels were elevated in patients with sporadic or recurrent porphyria attacks.
New AI algorithm scans patient records to find undiagnosed AHP

Jul 10, 2024 | porphyrianews.com | Margarida Maia |Andrea Lobo |Lindsey Shapiro |Claire Richmond

A new artificial intelligence (AI) algorithm may help reduce the time it takes to diagnose acute hepatic porphyria (AHP) and other rare diseases. That’s according to a study reporting that models using the AI algorithm “could identify 71% of [AHP] cases earlier than their diagnosis date, saving 1.2 years.”Despite these promising results, more extensive testing is needed to ensure the algorithm is accurate and reliable before it can be widely used, the researchers noted.
Iron supplements for EPP may cause PPIX toxic buildup: Study

Jul 3, 2024 | porphyrianews.com | Margarida Maia |Claire Richmond |Kristen Wheeden |Andrea Lobo

Oral iron supplements may help people with erythropoietic protoporphyria (EPP) build back their iron reserves and increase the levels of hemoglobin — the iron-containing protein that carries oxygen in red blood cells — a small study in Denmark suggests. However, even when taken at small doses over a short period of time, iron supplements may also increase the levels of protoporphyrin IX (PPIX), a compound that builds up in people with EPP, causing oversensitivity to sunlight and liver damage.
Mutation leads to hereditary hemochromatosis-induced PCT in man

Jun 12, 2024 | porphyrianews.com | Andrea Lobo |Claire Richmond |Brian Murphy |Marisa Wexler

A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of “PCT in the setting of previously undiagnosed HH [hereditary hemochromatosis] caused by [two copies of the] H63D mutation in the HFE gene, which has rarely been reported,” researchers wrote.