When patients have unusual sunlight sensitivity combined with liver damage, the possible diagnosis of erythropoietic protoporphyria (EPP) should be…
Articles by Marisa Horak, MS
Four cases of children diagnosed with porphyria were described in a recent report where researchers highlighted that, while porphyria…
For a teenage boy in Japan, it wasn’t until getting a second liver biopsy — nearly three years after his…
In an extremely unusual case, a young man in Turkey diagnosed as a child with spinal muscular atrophy, a rare…
Treatment with Givlaari (givosiran) normalized disease-related laboratory parameters in a 47-year-old woman with acute intermittent porphyria (AIP) but…
Among people with porphyria cutanea tarda (PCT) and chronic hepatitis C infection, treatment with modern antiviral medicines has been…
People with inactive porphyria who choose to fast for a day as part of their religious observances generally don’t…
Treatment with Scenesse (afamelanotide) — an implantable medicine used to treat people with intolerance to light — can help…
A woman with acute intermittent porphyria (AIP) developed acute liver injury due to treatment with Givlaari (givosiran), according…
The case of a teenager in Nepal who was diagnosed with porphyria following a detailed series of clinical tests…