Treatment with the investigational oral therapy bitopertin significantly reduced protoporphyrin-IX (PPIX) levels and was generally well tolerated in adults with erythropoietic protoporphyria (EPP), meeting the main goal of the Phase 2 AURORA clinical trial. Because toxic PPIX buildup is a major driver of EPP symptoms, the reductions seen in…
News
A rare complication of acute intermittent porphyria (AIP) was identified in a man in his 20s whose worsening abdominal pain during an acute porphyria crisis was found to be caused by necrotizing pancreatitis, an advanced and severe stage of pancreatic inflammation, according to a case report from India. Despite…
Diagnosis of porphyria cutanea tarda (PCT), the most common form of porphyria, is rare during childhood, and it can be easily overlooked when symptoms first appear early in life, a study in Argentina reveals. Despite showing hallmark PCT symptoms, nearly one-third of affected children were not diagnosed until adulthood, sometimes decades…
A man with monoclonal gammopathy of undetermined significance (MGUS), a blood abnormality that increases the risk of blood cancer, was later also diagnosed with variegate porphyria after developing widespread, unexplained symptoms. The case highlights the importance of considering rare diseases when a group of symptoms suddenly appear together and…
Getting an early diagnosis could potentially improve quality of life and alleviate “healthcare burdens” for people in Taiwan who are living with porphyria, according to a 20-year nationwide study that showed higher mortality rates and a younger age at death for patients compared with the general population. The retrospective, two-decade…
A treatment approved for adults, called Scenesse (afamelanotide), successfully treated a 9-year-old girl with erythropoietic protoporphyria (EPP) and extreme light sensitivity that required her family to live in darkness. According to a case study from Switzerland, the medication safely restored her light tolerance within days, quickly returning her…
In rare cases, epilepsy and posterior reversible encephalopathy syndrome (PRES), a condition marked by brain swelling that leads to seizures, headaches, and confusion, may be the first signs of acute intermittent porphyria (AIP), according to a case report. “This case highlights the heterogeneous [varied] neurological manifestations of AIP,…
Supplements of bacteria-derived lipoteichoic acid and alpha-lipoic acid — an insulin sensitizing compound — may help improve blood sugar control and the body’s response to insulin during a high-carbohydrate diet for acute intermittent porphyria (AIP), according to a study in mice. The study, “Oral lipoteichoic and lipoic acids…
A liver biopsy helped doctors diagnose a 75-year-old man who arrived at the hospital with abdominal pain and jaundice (yellowing of the skin and eyes) with protoporphyria, a type of porphyria. He recovered without treatment as his liver function improved spontaneously, according to a case report. “This report highlights…
Testing umbilical cord blood can help identify newborns with undiagnosed erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two inherited forms of porphyria marked by extreme sensitivity to light, according to a small study from the U.K. While symptoms of these diseases generally emerge at 1 year of age, extremely…
Recent Posts
- New trial results show bitopertin eases a major driver of EPP symptoms
- How porphyria tried to steal my purpose in life
- Researchers warn of severe pancreatitis during acute AIP attacks
- Pediatric porphyria cutanea tarda often goes undiagnosed: Study
- Complex symptoms may point to rare disease, case study shows
- The porphyria attacks that stomp on my ‘cute inner mitten’
- Early diagnosis in porphyria key to better quality of life: 20-year study
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- Scenesse quickly calms burning light pain for 9-year-old with EPP