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Home » Rare diseases » Very rare but treatable: how to reach people with paroxysmal nocturnal haemoglobinuria

Dr Morag Griffin

Joint PNH Service Lead, Leeds Teaching Hospitals NHS Trust

Dr Austin Kulasekararaj

Service Lead for the King’s National PNH Service,
King’s College Hospital NHS Foundation Trust

Paroxysmal nocturnal haemoglobinuria (PNH) is an extremely rare blood disease. However, thanks to a dedicated service, patients can receive expert care, support and a near-normal life expectancy in the UK.

As a disease affecting 16 per million people and with around 1,000 confirmed patients in the UK, a diagnosis of PNH can be a huge shock. It presents clinically with a variety of symptoms, such as haemoglobinuria (red or black urine); fatigue and shortness of breath.  

What is paroxysmal nocturnal haemoglobinuria? 

In PNH, red blood cells in circulation break apart prematurely. This ‘breaking apart’ is also called haemolysis. It can give rise to abdominal pain, erectile dysfunction and difficulty swallowing, as well as red or black urine. There’s also a much higher risk of blood clots. It can affect people of any age. PNH requires regular observation and treatment.  

Network of support for PNH patients 

Patients in the UK are fortunate to receive support and treatment from a dedicated network of medical professionals and patient support groups under The National PNH Service, formed in 2009. One of the experts, Dr Morag Griffin is a haematology consultant and joint service lead for PNH at St James’s University Hospital, Leeds — and one of the few specialist PNH consultants in the UK.  

“The national service was set up to be a patient-facing service. So, patients would be able to see our team at a particular clinic nearest to them, rather than having to come into Leeds or London,” she explains. With colleagues from her Leeds team and consultants from King’s College Hospital London, their clinic travels to eight areas in the UK regularly. 

Dr Austin Kulasekararaj, Consultant Haematologist and Lead for PNH services from King’s College Hospital London, further explains: “The ability to offer novel treatments, with the possibility of leading a normal life and preventing undue complications of PNH, is the ultimate goal of the National PNH service. It is through these clinics that this aim becomes possible.” 

Treatments in the UK and other countries with
advanced medicine in this area are 20 years old.

Dr Morag Griffin

Process of getting a diagnosis 

Patients can present with symptoms in any number of hospital specialities, so circulating knowledge about the disease is a key part of the network. “We do a lot of raising disease awareness because it is a very rare disorder. But if you find it, it’s very manageable. Patients will quite quickly be referred to a haematologist, depending on their pathway. The local haematologist will screen for PNH first and, if they find it, they will refer them to either Leeds or London,” Dr Griffin says.  

There’s a 24-hour clinical emergency service in her hospital in Leeds. In less critical cases, there are video call options for patients if they’ve missed one of the outreach clinic slots. “We’ll do a full clinical assessment and explain the condition to the patient,” adds Dr Griffin. 

Renowned worldwide for expertise in managing patients with PNH.

Worldwide network coverage  

As it is such a rare disease, there is a concentration of experience within the service that cannot be matched elsewhere in the world. UK specialists provide education worldwide to further PNH knowledge — both in terms of diagnosis and management, and this has improved patient care globally.  

Advancing treatment for more patients 

Treatments focus on binding proteins in the blood to prevent destruction of red blood cells and significantly reduce the risk of blood clots — known as complement inhibitor treatments. “Treatments in the UK and other countries with advanced medicine in this area are 20 years old; but it’s shocking that, in over 80% of the world, there are no complement inhibitor treatments available,” says Dr Griffin.  

International conferences and research projects could enable treatment access globally and improve side effect management for all ages and types of patients. “We currently have 64 patients in clinical trials in the UK, which is a testament to the work that doctors, nurses and allied staff — alongside patients — are doing to ensure quality of life is the highest it can be,” concludes Dr Griffin. 

This page has been funded by Sobi, but editorial control lies with the contributors. Sobi only performed a medical accuracy review but was not otherwise involved in the content.

September 2023

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