Paroxysmal Nocturnal Haemoglobinuria (PNH)

Overview of Paroxysmal Nocturnal Haemoglobinuria

Paroxysmal nocturnal haemoglobinuria (PNH) is an uncommon, acquired, life-threatening haematopoietic stem cell disorder. It is a clonal stem cell disorder, caused by an acquired mutation in a stem cell, resulting in a population of blood cells that lack glycosylphosphatidylinositol (GPI) anchors on their surface. In some cases, PNH can lead to serious medical complications, such as thrombosis or haemolytic anaemia.

Signs and Symptoms of Paroxysmal Nocturnal Haemoglobinuria

Common symptoms of PNH include:

Intermittent clusters of red or purple bruises
Unexplained fevers or chills
Pain in the joints or chest
Abnormal bruising or bleeding
Itching or rash on the skin

Diagnostic process of Paroxysmal Nocturnal Haemoglobinuria

PNH is a complex disorder, and diagnosis can be difficult. A variety of tests are used to diagnose PNH, including:

Complete blood counts (CBC) to measure hemoglobin and other blood components
Flow cytometry to detect the absence of GPI anchors on the surface of red cells
Tests to measure for lactate dehydrogenase (LDH), which is elevated in PNH
Genetic tests to detect the mutation that causes PNH

Treatment of Paroxysmal Nocturnal Haemoglobinuria

Currently, there is no cure for PNH, but there are treatments available to reduce symptoms and complications. Treatment for PNH typically includes:

Blood transfusions to replace lost red blood cells
Medications to reduce the rate of red cell destruction
Immune suppressants to help reduce the risk of thrombosis
Medications to reduce symptoms of anaemia.

Living with Paroxysmal Nocturnal Haemoglobinuria

Living with PNH can be difficult, but there are steps you can take to manage your condition and reduce symptoms. These include:

Eating a balanced, healthy diet
Making lifestyle changes to reduce stress and get enough rest
Exercising regularly
Avoiding activities or substances that could trigger symptoms
Maintaining regular appointments with your doctor