Updated: May 23
by Isobel Davies
In 1995, a GP saved my life.
I had developed lots of very painful blisters on my feet and hands that made me immobile. Dr McG had a good awareness of Dermatology cases and immediately referred me to the local Dermatology clinic where I remained for 2 weeks until all the skin had peeled from the soles of my feet and the palms of my hands. The locum GP I’d called on the phone before seeing my own GP was amazed to be asked for a referral due to blisters on the feet and refused to see me.
The good thing about this major flare up was that I was finally diagnosed with mucous membrane pemphigoid (MMP).
3 years previously, this autoimmune blistering disease had started to ravage my nose and larynx. It began with symptoms of a slightly blocked nose and then it became like a raging permanent cold. I developed dimples at the sides of my nose. A well-intentioned ENT specialist to whom I was referred, said the latter was impossible and it was an allergy. 3 years later, having spent a fortune on alternative therapies, my diagnosis arrived.
Shortly after recovering the ability to walk, I developed further breathing problems and was referred again to an ENT specialist who knew nothing about MMP but who also saved my life by excising the large amount of scar tissue that had built up in my epiglottis.
By this time, my nostrils were fused together and my sinus lining was damaged and scarred beyond repair. I now have no sense of smell but, after the removal of a large part of my septum and the care of specialists who have researched and tried to understand my disease, as well as the daily performance of a number of procedures, I can breathe, in part, through my nose. I was a senior manager in a large US Corporation and delivering speeches was confounded by my terrible nasal squeak!
Six-monthly de-crusting by the ENT Department at Hammersmith helps too. I have had my nose picked by many specialists. In May, 2019, I was intubated for 3 days following a large blister erupting and blocking my airway.
The MMP has romped through my body and affected all my orifices over the last 26 years or so. I regularly attend for check-ups at Oxford Churchill, ENT at Hammersmith, External Disease clinic at Moorfields as well as other specialist clinics. Finding someone with sufficient knowledge demands a fair amount of travelling. Specialists in rare diseases are like hen’s teeth.
I am also affected by several other health problems related to my MMP, the scarring it has left behind and 26 years of steroid (ab)use. I think it will be a lifelong commitment to prednisolone!
Probably the worst effect of MMP was around 10 years of missing a voice. Although the other symptoms were scary, life threatening and pretty unpleasant, being unable to speak affected my whole life and was extremely damaging to my spirit which is normally pretty upbeat.
Throughout all the years of being subject to MMP, I haven’t managed to find a treatment to knock it into remission and prednisolone remains the one drug that I can depend upon to manage the infrequent flares and the fear of another airway crisis. Rituximab is a possible final option, but it isn’t quite so effective for MMP and seems a scary option in the middle of a pandemic for a case that isn’t severe.
In the middle of all of this, I was asked to take over the leadership of a patient support group, PEM Friends (PEM is short for pemphigus and pemphigoid). Since then, we have developed a strong and supportive network of patients and their carers.
We have around 500 members in the UK and, between us, have amassed a significant understanding of how to deal with these rare auto immune blistering diseases.
The more usual presentation of an autoimmune blistering disease is Bullous Pemphigoid. That often starts with unbearable itching and then usually develop into large flaccid blisters. Data from the recent studies by the Centre of Evidence Based Dermatology (CEBD) suggest that BP is increasing and is more “uncommon” now than “rare”. In 2017, just over 1 in every 1,000 people were living with bullous pemphigoid, and, as the population lives for longer, the incidence is set to grow. The studies by the CEBD have increased our understanding of this disease and continue to add more and more to the data. Information can be found on their website.
Pemphigus is certainly rare but extremely painful, damaging and, before the advent of steroids, resulted in a high mortality rate. In 2017, the paper by William J Sanders in the USA suggested that Pemphigus Vulgaris is diagnosed in about 1-10 people in a million each year.
Mucous Membrane Pemphigoid (MMP) defies early diagnosis as it can affect any site, although the mouth and eyes are often the first, only or most affected locations of the blistering. According to the 2013 paper by Xu, Werth et al, MMP is estimated to affect around 1-2 people in every million. The first International Consensus on Mucous Membrane Pemphigoid (2002) by Chan, Ahmed, et al – a truly international panel of experts is still one of the seminal texts for anyone wanting to understand MMP.
Ocular MMP is an extremely unpleasant, painful and a potentially damaging condition. If not treated rapidly, it can result in blindness. The scarring that results from MMP was the reason that the original name for the disease was “cicatricial pemphigoid”. We are hopeful for a new treatment being developed by Si Rauz at Birmingham that will reduce the impact of the scarring.
The treatments for these blistering diseases have advanced substantially in the years since I was first diagnosed and continue to develop. PEM Friends is involved in trials, research, several studies and, currently, are part of a Priority Setting Partnership run by the Centre of Evidence Based Dermatology and James Lind Alliance. This latter group of experts and patients are identifying the most important areas for future research into blistering diseases. You can read more about this PSP which will publish its findings later this year here.
We know that more and more people are being diagnosed and feeling as if they are completely alone with their rare and painful symptoms. Hopefully, many can find their way to our doors.
Our regular Zoom calls have been a lifeline for those who have spent the last 2 years isolating or feeling isolated, and the National Lottery Community Fund grant has helped us to continue with this support.
Our magazine has also provided information and connections. The Easter edition is due out imminently, and all versions can be found here.
Our participation in research, trials and studies will continue apace, as will our collaboration with other organisations, such as GlobalSkin and the International Pemphigus and Pemphigoid Foundation.
We are planning to create a section on our website to give more background as well as photos, for medical practitioners. We would welcome any feedback on what information would be of most use and hope, also, to include a photo library. In the meantime, more information can be found at www.pemfriendsuk.co.uk and you can subscribe here.
Alternatively you can contact me at firstname.lastname@example.org
This article first appeared in the Primary Care Dermatology Society's Summer 2022 Bulletin.