Team Tausha: A Life Threatening Disease

PNH—A Life-Threatening Disease

Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive and destructive disease that can cause thrombosis, end-organ damage, and, ultimately, increased mortality.1-3

Moving Forward On this Blog, you can learn more about the pathophysiology of PNH and the signs and symptoms of the disease, examine a series of case studies, read about diagnosis and testing for PNH, and more.

Healthcare providers interested in learning about PNH pathophysiology or diagnosis and testing can get started with the facts about PNH.  Has your doctor diagnosed you with PNH? For information about your condition, a guide to discussing the disease with your doctor, and more, visit the home page for patients with PNH.

Facts About PNH

Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive and destructive disease that can cause thrombosis, end-organ damage, and, ultimately, increased mortality.

PNH Can Be Life Threatening

PNH is a complex disease that presents uniquely in each patient.1-3 The symptoms of PNH include abdominal pain, dyspnea, and fatigue. Because these symptoms are common to many diseases, a diagnosis of PNH is often overlooked. In the meantime, the patient's chance of experiencing serious sequelae of PNH — including thrombosis, chronic kidney disease (CKD) and renal failure, and pulmonary hypertension — grows.

Pathophysiology

PNH is an acquired hematopoietic stem cell disorder in which blood cells lack key, naturally occurring terminal complement inhibitors on the cell surface, rendering them vulnerable to lysis by the membrane attack complex (MAC).4-6

Consequences of Hemolysis

The consequences of hemolysis in PNH can be sudden and potentially fatal.7,8The most common, thromboembolism, can present in typical or atypical sites, can be venous or arterial, and can affect patients young and old.2 Other consequences include CKD, pulmonary hypertension, and end-organ damage.9

Signs & Symptoms

A patient may present with any of the common symptoms of PNH, including abdominal pain, anemia, fatigue, or impaired quality of life (QoL). These symptoms, however, may be indicative of more serious underlying consequences of the disease.