Acute Porphyria Attacks

Porphyrias are a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. There are several types of porphyrias, each with different symptoms and disease progression. Patients with acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria are…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…

Porphyria refers to a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. Several types of porphyria exist, each with different symptoms and disease progression. Patients with acute porphyria can experience episodes of severe symptoms that…

Excessive levels of estrogen associated with hormone therapy changes and risk factors such as smoking may lead to porphyria cutanea tarda (PCT) in transgender women, a case study reported. The findings add to the increasing body of evidence highlighting the higher risk of skin problems in transgender women on long-term…

If you have a rare genetic disease like porphyria, you may be wondering whether your children could inherit the disease. Differing types of porphyria can have different inheritance patterns, and their disease-causing mutations can be found in differing genes. If you are planning to expand your family, you may want…

Porphyria is a group of genetic disorders in which there are high levels of porphyrins in the blood and tissues. Each type of porphyria has different symptoms and disease progression. That’s why a series of exams and tests may be necessary to diagnose a patient with…

Severe lack of hydroxymethylbilane synthase (HMBS) — the defective enzyme in people with acute intermittent porphyria (AIP) — led to abnormalities in mitochondria essential for cellular energy, and to depression-like symptoms in a mouse model of the disease, a study reports. The study, “Severe hydroxymethylbilane synthase…

If you’ve been diagnosed with porphyria — one of a group of disorders characterized by very high levels of porphyrins in the blood and tissues — you may be wondering how the disease affects your lifespan. Several factors affect a person’s lifespan, including genetics, the environment, and one’s…

Antiviral treatment can prevent the onset of porphyria cutanea tarda (PCT) in people with hepatitis C and urine abnormalities indicating this form of porphyria, a study found. The study, “Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct‐acting anti‐virals,” was published in the…