Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by vascular proliferation and remodeling of the small pulmonary arteries that ultimately causes right heart failure and premature death. The predominant symptom of PAH is dyspnea on exertion, with a decrease in exercise capacity.1 A variety of methods are available for the objective assessment of…
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Researchers found that the plasma concentration of soluble receptor for advanced glycation end products (sRAGE) is a sensitive and accurate biomarker for adult pulmonary arterial hypertension (PAH). They concluded that sRAGE “has comparable diagnostic accuracy to the established heart failure biomarker [N-terminal prohormone of brain natriuretic peptide] and shows even better performance in the distinction…
NEW YORK, New York — Pulmonary arterial hypertension (PAH) is an extremely rare disease, affecting anywhere between 2.0 people per million in the United States to 7.6 per million in Scotland, according to a 2019 review article in European Respiratory Review. In fact, PAH is so rare, says Noah Greenspan, DPT, even many pulmonologists don’t know what to…
Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses. The virtual ceremony was hosted by John Whyte, MD, MPH, chief medical officer at WebMD, with commentary…
As the super-contagious Delta variant of COVID-19 sweeps across the globe, driving up infection rates as well as deaths, top US health officials are urging everyone 12 and older — including the country’s 30 million or so rare disease patients — to get vaccinated quickly. Some 185 million people have been infected, and nearly 4…
Before his life got turned upside down, Gerald Fischer was a top manager at one of Europe’s largest tour operators, traveling the world on behalf of leading Austrian celebrities while running his family’s thriving liquor business as a fifth-generation distiller. Everything changed in 1998, the year Fischer’s frail 3-year-old daughter Maleen was diagnosed with pulmonary…
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