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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

A case study detailing the treatment of an 84-year-old man who developed B-cell prolymphocytic leukemia and cold type autoimmune hemolytic anemia (AIHA) suggests possible “innovative” therapies for these rare diseases. The study, a letter to the editor titled “Hot and Cold: A Concurrent Warm and Cold Autoimmune Hemolytic…

A rare case of a patient with cold agglutinin disease (CAD) who developed a blood cancer called multiple myeloma was recently reported by researchers in Norway. Although both conditions are linked to malfunctioning of B-cells, in this case, clinicians believe the patient developed the two disorders independent of each…

First-line treatment of cold agglutinin disease (CAD) should employ a combination of Rituxan (rituximab) and bendamustine, according to a review study. The scientists also highlight the potential of therapies targeting the complement system, which are undergoing clinical trials. The research, “Cold agglutinin disease: current challenges…

Vigilant monitoring of cold hemagglutinin disease patients undergoing heart surgery can help prevent dangerous complications, a case report study says. The study, “Anaesthetic management for cardiac surgery in patients with cold haemagglutinin disease,” was published in the Indian Journal of Anaesthesia. Cold hemagglutinin disease (CHAD or CAD)…

Cold agglutinin disease (CAD) patients who relapse after standard treatment could benefit from a short-term course of treatment with bortezomib, an approved therapy for certain cancers, a Phase 2 clinical trial shows. Trial findings were published in the study, “Short course of Bortezomib in anemic patients with relapsed cold…

Patients with cold agglutinin disease (CAD) are twice as likely to die of their disease within the first five years after being diagnosed, when compared with the general population, a study says. The findings announced by Bioverativ — a pharmaceutical company now part of Sanofi that is focused…

Treatment with the anti-PD-1 targeted checkpoint inhibitor Keytruda (pembrolizumab) was found to trigger autoimmune hemolytic anemia (AIHA) in a man with non-small cell lung cancer (NSCLC). The case was described in the study, “Pembrolizumab-induced Autoimmune Hemolytic Anemia and Hemophagocytic Lymphohistiocytosis in Non-small Cell Lung…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

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,…