Acute intermittent porphyria (AIP) is associated with a higher prevalence of high blood pressure (hypertension) and heart structural changes, according to a recent study. The results suggest that age, body mass index (BMI) — a measure of body fat based on a weight-to-height ratio — and a history of…
News
The experimental drug bitopertin is now available through an expanded access program for eligible patients aged 12 and older with erythropoietic protoporphyria (EPP), allowing them to receive the oral treatment while it continues to be tested in late-stage clinical studies. “Recognizing the urgent need for new treatment options for…
The Global Porphyria Advocacy Coalition (GPAC) announced that an international database focused on the safety of medications for people with acute porphyria is now available in Spanish. People with certain types of porphyria may experience attacks of worsening symptoms after using certain commonly prescribed medications. The Norwegian…
A blood stem cell transplant, often called a bone marrow transplant, may effectively treat children with congenital erythropoietic porphyria (CEP), although complications remain common, according to a French study. The researchers found that the procedure, also known as HSCT, for hematopoietic stem cell transplantation, resolved disease symptoms in most children,…
May 18 is Global Porphyria Day, and advocates worldwide are planning several initiatives to raise awareness of this group of genetic diseases — and improve understanding of the challenges of living with porphyria. “As a rare disease, porphyria is often unheard of, unseen and misunderstood,” the United Porphyrias…
A 71-year-old woman in China with type 2 diabetes experienced three years of unexplained abdominal pain and psychiatric symptoms until she was ultimately also diagnosed with variegate porphyria (VP), a type of the rare genetic disorder that’s usually marked by severe pain around the abdomen. Because her symptoms did…
Among people with acute intermittent porphyria (AIP), high levels of two compounds in urine are linked to increased odds of occasional or recurrent attacks, with levels of one, called aminolevulinic acid or ALA, also tied to a greater likelihood of hospitalization. That’s according to the findings of a new…
A 16-year-old boy with acute intermittent porphyria (AIP), who first had abdominal pain and later developed seizures and was found to have a rare brain condition involving swelling, gradually recovered with a high-carbohydrate diet, anti-seizure medications, and by avoiding known triggers, according to a report from India. “Raising clinical…
A recent report described the case of a woman with acute intermittent porphyria (AIP) who experienced a rare complication called gonadal vein thrombosis (GVT), a blood clot that forms in veins that drain blood from the reproductive organs. The symptoms initially raised concerns for an AIP flare, so clinicians…
Clinicians have identified undiagnosed cases of acute hepatic porphyria (AHP) among people with suspected Familial Mediterranean Fever (FMF), an inherited inflammatory condition with nearly identical symptoms, a study reported. While the main manifestation of both conditions is sudden abdominal pain, symptoms exclusive to AHP were neuropathic, such as…
Recent Posts
- New AIP study finds higher rates of hypertension, heart changes
- Program provides early access to experimental EPP treatment
- Acute porphyria drug safety database now available in Spanish
- In rare disease advocacy, helping one person is the whole point
- Childhood CEP symptoms ease with blood stem cell transplant: Study
- Global Porphyria Day aims to build awareness through art, personal stories
- Lack of skin symptoms for woman leads to variegate porphyria ‘blind spot’
- Because of AIP, I’m no longer the dependable person I once was
- During acute AIP attacks, high levels seen for 2 compounds in urine: Study