A study in mice suggests that genetic makeup and diet may influence a person’s susceptibility to developing sporadic porphyria cutanea tarda (PCT), the most common form of porphyria, after exposure to environmental triggers. When researchers exposed mice to excess iron, a known trigger of PCT, only some developed…
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A woman with acute intermittent porphyria (AIP) developed lasting nerve damage after repeated disease attacks, resulting in distinctive hand changes known as “claw hands,” according to a case report from Taiwan. In this condition, the fingers curve into a claw-like position due to damage affecting the nerves that control…
New drug candidates being tested for erythropoietic protoporphyria (EPP) cannot yet be reliably compared with Scenesse (afamelanotide), the only approved treatment for adults with the disease, because their clinical trials are designed in very different ways, according to a new analysis. “Efficacy and safety of currently investigated treatments…
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…
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,…
Recent Posts
- Mouse study: Genes, diet may shape risk for common porphyria
- Claw-like hands revealed hidden nerve damage in woman with AIP
- Being a blessed porphyria warrior is about more than just a slogan
- New EPP drug candidates hard to compare with Scenesse, analysis finds
- 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