Multiple testing and specialist appointments are often needed for diagnosing erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), and both conditions…
Articles by Andrea Lobo, PhD
A 17-year-old girl was eventually diagnosed with acute intermittent porphyria (AIP) after experiencing several episodes of intense abdominal pain,…
A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed…
In a real-world study in Germany, Givlaari (givosiran) was found to effectively prevent severe acute attacks and reduce chronic…
Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT),…
Vitamin D plays a crucial role in maintaining and enhancing bone mineral density in people with erythropoietic protoporphyria (EPP),…
Note: This story was updated Oct. 25, 2024, to correct that hemin was used during this study to treat…
The United Porphyrias Association (UPA) has received a five-year grant from the Chan Zuckerberg Initiative Rare As One…
A 21-year-old woman was diagnosed with congenital erythropoietic porphyria (CEP) — the rarest of porphyria types — after developing…
The case of a 16-year-old girl with recurrent acute intermittent porphyria (AIP) attacks who saw her symptoms ease after…