Despite the fact that PNH patients who have access to treatment are in an enviable position, the “diagnostic odyssey” which affects rare diseases generally, equally applies to PNH. General Practitioners and haematologists need to be able to recognise a disparate set of symptoms, such as anaemia, stomach and back pain, dysphagia (difficulty swallowing), jaundice, breathlessness, erectile dysfunction, severe fatigue and dark or red coloured urine.
As not all patients experience all these symptoms and especially, perhaps the most telling one, dark/red coloured urine, the recurrent stomach pain can send patients down a urology and/or gastroenterology pathway for years at a time. Anorexia has been another misdiagnosis resulting from weight loss due to difficulty swallowing as a result of the dysphagia (which results from the free haemoglobin from the damaged red cells binding and removing nitric oxide). Complications caused by PNH prior to diagnosis can lead to irreparable damage which is why diagnosis and/or referral to a PNH specialist in a timely manner, is vital.
To confirm a diagnosis of PNH, a blood sample can be sent to a specialist laboratory to check whether it contains any PNH blood cells using a test called “flow cytometry”. This shows the percentage of red and white PNH cells in the blood. It is more accurate for white blood cells during or just after an episode of haemolysis or a blood transfusion.
There are different treatments that those living with PNH may require. Some people, especially those with a small PNH clone may require little or no treatment.
PNH Global Alliance
By Address: APN Backoffice BV
Postbox 91
4000 AB TIEL
The Netherlands
Chamber of Commerce number 75270854.
Info available at www.kvk.nl
Bank NL77ABNA0877597847
The PNH Global Alliance receives €250 per year as membership fees. The members are mostly volunteer organisations with very limited financial resources, if any. The work of the Alliance is undertaken predominantly by patients, who do this voluntarily alongside their paid jobs. Contributions will enable us to continue to outsource some administration and pay for travel costs so that ideally we can meet in person once a year. A tax receipt is provided on request.