Pnh Disease: A Comprehensive Guide

What is PNH Disease?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening blood disorder in which red blood cells are prematurely destroyed.

This destruction, called hemolysis, leads to a range of symptoms, including fatigue, shortness of breath, and dark urine.

Causes of PNH Disease

PNH is caused by a genetic mutation that affects the production of proteins that protect red blood cells from destruction.

Risk Factors for PNH Disease

Certain factors may increase the risk of developing PNH, including:

• Certain blood disorders, such as aplastic anemia
• Exposure to certain chemicals, such as benzene
• Family history of PNH

Symptoms of PNH Disease

The symptoms of PNH can vary depending on the severity of the condition.

Common symptoms include:

• Fatigue
• Shortness of breath
• Dark urine
• Abdominal pain
• Nausea and vomiting

Diagnosis of PNH Disease

PNH is diagnosed with a blood test that measures the levels of a protein called CD59 on red blood cells.

Low levels of CD59 indicate the presence of PNH.

Treatment for PNH Disease

The goal of treatment for PNH is to prevent hemolysis and reduce symptoms.

Treatment options include:

• Eculizumab (Soliris)
• Blood transfusions
• Bone marrow transplant

Outlook for PNH Disease

The outlook for people with PNH has improved significantly with the development of new treatments.

With early diagnosis and treatment, most people with PNH can live full and active lives.

Additional Information

For more information on PNH disease, please visit the following websites:

• Aplastic Anemia & MDS International Foundation
• PNHinfo
• National Center for Biotechnology Information