Christopher Patriquin, MD, Hematologist at Toronto General Hospital, discusses the diagnostic process for paroxysmal nocturnal hemoglobinuria (PNH), including symptoms that may suggest the disease.
PNH is a rare, life-threatening blood disorder characterized by hemolysis. Persistently low hemoglobin levels can result in severe fatigue and difficulty breathing. Additionally, individuals with PNH are susceptible to thrombotic events and many have some degree of bone marrow dysfunction.
As Dr. Patriquin explains, despite increased awareness of the disease, the diagnostic journey for patients with PNH can still be long. Symptoms that ought to raise suspicion of the disease include atypical thrombosis and evidence of hemolysis. Abdominal pain, kidney failure, chest pain, and difficulty breathing may also suggest untreated or undertreated PNH. Once PNH is suspected, flow cytometry can confirm a diagnosis. Treatments are also available for this rare condition. In May 2021, the U.S. Food and Drug Administration (FDA) approved pegcetacoplan to treat PNH.
To learn more about PNH and other rare blood disorders, visit checkrare.com/diseases/hematologic-disorders/.