A young woman whose recurrent muscle weakness and breathing problems were long mistaken for myasthenia gravis, a neuromuscular disorder, was ultimately diagnosed with variegate porphyria (VP) after advanced genetic testing uncovered a disease-causing mutation, a case report shows. “In the described case, the patient’s atypical clinical manifestations led to…
Discussion
An oral small molecule called PORT-77, being developed to treat two types of porphyria, was found in a small study to rapidly reduce the toxic buildup of a compound known as protoporphyrin IX (PPIX) in blood — suggesting it could become a disease-modifying treatment for these genetic disorders, according…
Discussion
Givlaari (givosiran), an approved therapy for acute hepatic porphyria (AHP), was associated with several potentially new safety signals not included in the therapy’s prescribing information, according to a large real-world safety analysis. By analyzing more than 1,200 reports of adverse events associated with Givlaari in a U.S. drug safety…
Discussion
Lately, there has been more attention directed my way than I am entirely comfortable with. Recently, it came after my team shared behind-the-scenes photos from filming a segment for the morning television show “The Balancing Act” in the office of the United Porphyrias Association (UPA), where I serve…
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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