With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
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Patients who experience an angioedema attack during treatment with angiotensin-converting enzyme inhibitors — a kind of medication for high blood pressure and heart failure — may safely switch to a different kind of blood pressure medication called angiotensin II receptor blockers, a study found. The study, “Angiotensin II receptor blockers…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
Using under-the-skin delivery of a C1-inhibitor (C1-INH) formulation in patients with hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) decreased the number and severity of HAE attacks, was well-tolerated, and was associated with high patient satisfaction in a Phase 3 trial. The research, “Fixed-Dose Subcutaneous C1-Inhibitor Liquid…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders ranging…
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…
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Shortened FXII Clotting Protein May Play Key Role in HAE with Normal C1-inhibitor, Study Suggests
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…
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