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…
Discussion
Fezzy Wezzy is a cute little kitten. Fezzy Wezzy is as soft as a mitten. Festus’ claws, however, will tear you to shreds. Festus “Fezzy Wezzy” naps with his paw in his owner’s palm. (Photo by Kalyn Shelton) One-year-old Festus “Fezzy Wezzy” is as soft as a brand-new pair…
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…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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