Paroxysmal nocturnal haemoglobinuria (PNH) is a rare blood disorder that can cause a range of symptoms, including fatigue, blood clots, and dark-coloured urine. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it.

What is Paroxysmal Nocturnal Haemoglobinuria?

PNH is a rare condition where red blood cells are destroyed earlier than they should be. This process is called haemolysis (the breakdown of red blood cells). The destruction occurs because the red blood cells lack certain proteins that protect them from being attacked by your immune system.

The name “paroxysmal nocturnal haemoglobinuria” comes from:

• Paroxysmal: Symptoms can occur suddenly.
• Nocturnal: Symptoms may be more noticeable at night or in the morning.
• Haemoglobinuria: Refers to the presence of haemoglobin (a protein in red blood cells) in the urine, which can make it appear dark or reddish.

Key Facts About Paroxysmal Nocturnal Haemoglobinuria

Background

• PNH was first described in the 19th century but became better understood in the 20th century with advances in medical science.
• It is classified as an acquired genetic disorder, meaning it is not inherited but develops due to changes in your bone marrow cells.

Causes

• PNH occurs due to a mutation in a gene called PIGA, which affects the production of protective proteins on the surface of red blood cells.
• This mutation happens in stem cells (cells in your bone marrow that produce blood cells) and leads to the production of abnormal red blood cells.

Incidence and Prevalence

1. Incidence: Around 1–2 cases per million people are diagnosed each year globally.
2. Prevalence: It is estimated that 10–20 people per million are living with PNH at any given time.

Who is Affected?

• Age of Onset: PNH can develop at any age but is most commonly diagnosed in young adults between 30 and 40 years old.
• Gender: Both males and females are equally affected.
• Ethnicity: PNH occurs worldwide and affects all ethnic groups equally.

Geographic Distribution

• There are no specific regions with higher prevalence; cases have been reported globally.

How Does Paroxysmal Nocturnal Haemoglobinuria Impact You?

Symptoms

The symptoms of PNH can vary widely between individuals but may include:

Common Symptoms:

• Fatigue or weakness due to anaemia (low levels of red blood cells).
• Dark-coloured urine, especially in the morning.

Severe Symptoms or Complications:

• Blood clots (thrombosis), which can occur in unusual places like veins in the abdomen or brain.
• Shortness of breath or chest pain due to reduced oxygen delivery to tissues.
• Abdominal pain or difficulty swallowing.

Living With Paroxysmal Nocturnal Haemoglobinuria

Living with PNH can be challenging, as symptoms may fluctuate over time. Regular monitoring and treatment can help manage the condition and reduce complications.

Expected Life Expectancy

With advances in treatment, many individuals with PNH now live normal or near-normal lifespans. However, untreated severe cases may lead to life-threatening complications such as blood clots or organ damage.

Managing and Treating Paroxysmal Nocturnal Haemoglobinuria

Available Treatments

Treatment for PNH focuses on managing symptoms, preventing complications, and improving quality of life:

• Medications:
  • Complement Inhibitors: These drugs block part of your immune system that attacks red blood cells:
    • Eculizumab: A medication given through intravenous infusion every two weeks.
    • Ravulizumab: A newer option requiring infusions every eight weeks.
  • These treatments significantly reduce haemolysis and improve symptoms like fatigue and risk of blood clots.

• Blood Transfusions:
  • May be needed if you develop severe anaemia.

• Anticoagulants (Blood Thinners):
  • Prescribed to prevent or treat blood clots.

• Bone Marrow Transplantation:
  • The only potential cure for PNH but is typically reserved for severe cases due to risks associated with the procedure.

• Supportive Care:
  • Iron supplements if iron levels are low due to chronic haemolysis.
  • Folate supplements to support new red blood cell production.

Ongoing Clinical Research

Research into PNH continues to focus on improving treatment options and understanding the disease better:

1. New Complement Inhibitors: Trials are underway for medications that may offer more convenient dosing schedules or fewer side effects.
2. Gene Therapy: Scientists are exploring ways to correct the underlying genetic mutation responsible for PNH.
3. Biomarker Studies: Efforts are being made to develop better tests for early diagnosis and monitoring treatment effectiveness.

For more information on clinical trials, visit clinicaltrials.gov.

Support Groups and Resources

If you have been diagnosed with PNH, connecting with support groups can provide valuable information and emotional support:

1. PNH Support UK (pnhuk.org) – Offers resources for patients living with PNH in the UK.
2. Aplastic Anaemia Trust (theaat.org.uk) – Provides support for related bone marrow failure conditions.
3. PNH Alliance (Global) (pnhalliance.org) – An international organisation offering education and advocacy for patients with PNH.
4. Rare Disease UK (raredisease.org.uk) – Provides resources for individuals living with rare conditions like PNH.

---

Remember:

This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.

---