Pnh Disease: A Comprehensive Guide

What is PNH Disease?

PNH (Paroxysmal Nocturnal Hemoglobinuria) is a rare, acquired blood disorder characterized by the destruction of red blood cells (RBCs) by the complement system, a part of the immune system that normally protects the body from infection.

PNH is caused by a genetic mutation in a gene called PIG-A, which leads to the deficiency of a protein called GPI (glycosylphosphatidylinositol) on the surface of RBCs and other blood cells.

Without GPI, RBCs become susceptible to attack by the complement system, resulting in their destruction and the release of hemoglobin into the bloodstream.

Symptoms of PNH Disease

The symptoms of PNH can vary depending on the severity of the disease, but may include:

• Fatigue
• Shortness of breath
• Dark or bloody urine
• Abdominal pain
• Nausea and vomiting
• Thrombosis (blood clots)

Diagnosis of PNH Disease

PNH is diagnosed through a blood test called a flow cytometry assay, which can detect the absence of GPI on RBCs.

Other tests that may be used to confirm the diagnosis include:

• Hemoglobin electrophoresis
• Bone marrow biopsy
• Genetic testing

Treatment for PNH Disease

The treatment for PNH depends on the severity of the disease and the patient's individual needs.

Treatment options may include:

• Blood transfusions
• Eculizumab (Soliris), a medication that inhibits the complement system
• Stem cell transplant

Prognosis for PNH Disease

The prognosis for PNH has improved significantly with the advent of new treatments, such as eculizumab.

With proper treatment, most patients with PNH can live full and active lives.

Additional Resources

• PNH Center
• PNH Disease: A Review of Current and Emerging Therapies
• Paroxysmal Nocturnal Hemoglobinuria (PNH)