News

Intestinal hereditary angioedema (HAE) should be considered as a possible cause of abdominal pain, even in patients with normal C1 inhibitor protein levels, suggests a case report study that described a woman with HAE being misdiagnosed with infectious colitis. The case study, “Wolf in the sheep’s clothing: intestinal angioedema mimicking…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

An abnormally short form of the clotting protein factor XII (FXII), caused by specific mutations in its gene, may lead to swelling episodes in hereditary angioedema (HAE) patients with normal C1-inhibitor activity, according to a study. The study, “A Mechanism for Hereditary Angioedema with Normal C1-Inhibitor:…

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…

Attune Pharmaceuticals’ ATN-249, an investigational kallikrein inhibitor for the prevention of swelling attacks in hereditary angioedema (HAE) patients, was found generally safe and well-tolerated in a Phase 1 clinical trial with healthy volunteers, the company announced. Findings from this first-in-human trial (ACTRN12618000430235) were also presented during the recent Western Society…

The case of a man with hereditary angioedema (HAE) who remained undiagnosed for 62 years underscores the importance of carefully evaluating not only the clinical data of suspected patients, but also their family history. Due to the diagnosis delay the patient…

Some mutations in the SERPING1 gene that cause hereditary angioedema (HAE) result in an abnormal form of the C1 inhibitor (C1-INH) that binds to and traps healthy C1-INH in cells, severely reducing the amount of protein available to prevent HAE attacks, a study shows. The study, “Dominant negative SERPING1…

Physicians in Canada need better education about the multiple biological assays used to diagnose hereditary angioedema caused by C1 inhibitor deficiency (C1-INH-HAE), which will increase their confidence and access to relevant tests, a study shows. The study, “The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey…

Researchers have developed a more cost-effective supporting diagnostic test for hereditary angioedema (HAE) to detect genetic changes that are otherwise missed by current standard methods. The study, “Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…