Marisa Wexler, MS, senior science writer —

Soliris (eculizumab) can meaningfully ease fatigue and other symptoms commonly reported by people with atypical hemolytic uremic syndrome (aHUS), a study drawn from real-world data shows. These benefits also appear to be sustained with continued treatment, findings suggested. The study, “Functional Assessment of Fatigue and Other…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Research is needed to identify more mutations that cause atypical hemolytic uremic syndrome (aHUS), as well as to establish best practices for long-term treatment with Soliris (eculizumab), a case report highlights. The study, “A Case Report of Atypical Hemolytic Uremic Syndrome in a Two-Month-Old Infant…

The Committee for Medicinal Products for Human Use (CHMP) has recommended that a new 100 mg/mL advanced formulation of Ultomiris (ravulizumab) be approved in the European Union to treat atypical hemolytic uremic syndrome (aHUS) and paroxysmal nocturnal hemoglobinuria (PNH). Following this opinion from the CHMP, an arm…

Researchers have identified a novel mutation in the gene DGKE that can cause atypical hemolytic uremic syndrome (aHUS) but is not part of the complement system, suggesting that complement activation does not always underlie the disease. The case report, “Whole exome sequencing revealed a novel…

Soliris (eculizumab) is safe and effective for the prevention of recurrence in people with atypical hemolytic uremic syndrome (aHUS) who received kidney transplants, a 10-year follow-up study indicates. The study, “Ten-year outcome of Eculizumab in kidney transplant recipients with atypical hemolytic uremic syndrome–…

Atypical hemolytic uremic syndrome (aHUS) can co-exist with autoimmune disorders, complicating the diagnosis of the rare blood-clotting disease, a case report shows. The findings highlight the need for genetic testing to diagnose aHUS in complex cases, the researchers said. The case report, “Atypical Hemolytic…

A rare type of inflammatory arthritis known as Still’s disease may trigger the development of atypical hemolytic uremic syndrome (aHUS), a recent case report suggests. A timely diagnosis of these conditions is critical to avoid irreparable damage to organs, the authors warn. The report, “Aggressive…

Atypical hemolytic uremic syndrome (aHUS) can co-exist with autoimmune thyroid disease, and the two conditions may influence each other’s development, a case report suggests. The report, “Atypical hemolytic uremic syndrome precipitated by thyrotoxicosis: a case report,” was published in BMC Pediatrics. Autoimmune thyroid disease (AITD)…

The first known case of atypical hemolytic uremic syndrome (aHUS) and adult-onset cobalamin C deficiency, a metabolic disorder, occurring together in the same person was described in a recent case report. The report, “Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in…