Treatment options have evolved for paroxysmal nocturnal hemoglobinuria (PNH), giving patients with this ultra-rare blood disorder improved quality of life.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and acquired bone marrow disorder. It occurs when a branch of our immune system (the complement system) attacks our red blood cells, leading to serious complications like blood clots. Diagnosis is made using a simple blood test known as flow cytometry test. However, because patient symptoms vary, doctors may not think to test for it. “For that reason, many patients end up seeing multiple specialists before getting a diagnosis,” says Dr. Marc Bienz, Medical Director of Transfusion Medicine, Division of Hematology, Jewish General Hospital, Assistant Professor, Department of Medicine, McGill University. About 30 per cent of newly diagnosed cases evolve from another blood disorder called aplastic anemia.
Decision to try new therapy leads to improvement
Desirae McQuade, 30, can relate. Diagnosed with aplastic anemia in 2015, she knew she could potentially develop PNH but didn’t connect the two when she started feeling fatigued in 2021. She then developed trouble swallowing followed by a sudden onset of severe double vision which landed her in the emergency room. Despite explaining her medical history of aplastic anemia, McQuade was misdiagnosed with a migraine, and she was sent home.
McQuade’s family doctor urged her to return and push for further testing. Eventually, she was seen by a hematologist who confirmed a PNH diagnosis and started her on first-line complement inhibitor therapy, given by intravenous infusion in hospital every two weeks. Her symptoms abated slightly, then plateaued, and then worsened. Frustrated with lack of response and her experience with previous treatments, McQuade initially declined her doctor’s suggestion to try a new second-line therapy. Finally, motivated by his enthusiasm and her own curiosity, she agreed to try it. “I started the new treatment in December 2023 and for the first time since starting PNH treatment, I’ve had a noticeable and quick improvement,” she says.
New treatment options offer improved quality of life
After 10 years of having only one option, a C5i complement inhibitor, the PNH treatment landscape has changed for healthcare providers and patients like McQuade who don’t respond optimally to standard first-line therapy. These include a newer version of first-line therapy that’s administered every eight weeks, a second-line subcutaneous option administered by the patient at home (McQuade’s current treatment), and some new second-line therapies currently under evaluation. “I would emphasize, however, that all treatment options have pros and cons, so we need to find the best fit for the individual patient,” says Dr. Bienz.
Fatigue, low hemoglobin levels and continued dependence on blood transfusions could be the result of a sub optimal response to treatment. Another confounding factor to consider is the presence of an existing blood condition. “Because PNH is frequently acquired in the context of other bone marrow disorders like aplastic anemia it may not necessarily be that their PNH is poorly controlled, but that the other disorder is worsening, so it’s important for us to make that distinction,” says Dr. Bienz.
Nevertheless, with new treatment options offering symptom improvement and transfusion independence for many patients, Dr. Bienz encourages people whose PNH is not well controlled by first-line therapy to ask their doctor if they would benefit from one of the new treatments.
As for McQuade, she’s grateful to be benefitting from her current treatment and her doctor’s encouragement to try it. “He was a huge advocate and really determined to get this going for me,” says McQuade. Her advice to others is to be open-minded to experiencing a better quality of life. “I was a bit intimidated at first by the responsibility of doing infusions myself, but once I learned how to do it, it got very easy for me,” she says.
Learn more about other patient experiences with PNH.
