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Facts About PNH
Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive and destructive disease that can cause thrombosis, end-organ damage, and, ultimately, increased mortality.1-3
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.7,8 The 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.
Case Studies in PNH
These cases display the variable presentation of PNH and provide healthcare professionals with insight into diagnosing the disease. Case studies of patients with varying presentations of PNH will help you recognize PNH patients in your own practice.
1. Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. N Engl J Med. 1995;333:1253-1258.
2. Socié G, Mary J-Y, de Gramont A, et al; for the French Society of Haematology. Lancet. 1996;348:573-577. 3. Nishimura J-I, Kanakura Y, Ware RE, et al. Medicine. 2004;83:193-207.
4. Rosse WF, Hillmen P, Schreiber AD. Hematology (Am Soc Hematol Educ Program). 2004;48-62.
5. Wiedmer T, Hall SE, Ortel TL, Kane WH, Rosse WF, Sims PJ. Blood. 1993;82:1192-1196. 6. Rother RP, Bell L, Hillmen P, Gladwin MT. JAMA. 2005;293:1653-1662. 7. Rosse WF. In: Hoffman R, Benz EJ Jr, Shattil SJ, et al, eds. Hematology: Basic Principles and Practice. 3rd ed. New York, NY: Churchill Livingstone; 2000:331-342. 8. Hill A, Richards SJ, Hillmen P. Br J Haematol. 2007;137:181-192.
9. Dacie JV, Lewis SM. Ser Haematol. 1972;5:3-23.
2. Socié G, Mary J-Y, de Gramont A, et al; for the French Society of Haematology. Lancet. 1996;348:573-577. 3. Nishimura J-I, Kanakura Y, Ware RE, et al. Medicine. 2004;83:193-207.
4. Rosse WF, Hillmen P, Schreiber AD. Hematology (Am Soc Hematol Educ Program). 2004;48-62.
5. Wiedmer T, Hall SE, Ortel TL, Kane WH, Rosse WF, Sims PJ. Blood. 1993;82:1192-1196. 6. Rother RP, Bell L, Hillmen P, Gladwin MT. JAMA. 2005;293:1653-1662. 7. Rosse WF. In: Hoffman R, Benz EJ Jr, Shattil SJ, et al, eds. Hematology: Basic Principles and Practice. 3rd ed. New York, NY: Churchill Livingstone; 2000:331-342. 8. Hill A, Richards SJ, Hillmen P. Br J Haematol. 2007;137:181-192.
9. Dacie JV, Lewis SM. Ser Haematol. 1972;5:3-23.
PNH Facts:
35% of patients with PNH die within 5 years of diagnosis. Thrombosis is the leading cause of death.
Some of the consequences of hemolysis include stroke or TIA, pulmonary embolism or DVT, and end-organ damage to the brain, liver, gastrointestinal tract, or lungs.