Diagnosis
This page covers the following:
Introduction
Having symptoms of pemphigus or pemphigoid but not knowing the cause can be very worrying. Symptoms can emerge quickly or slowly, and it often takes quite a while to discover the cause.
Before you are diagnosed
If pemphigus or pemphigoid are suspected, our pages for health care professionals (clinicians) offer a diagnosis tool and a photo library. These are rare diseases, and the symptoms are often confused with those of other ailments.
Also look at the patient journeys which can help to identify symptoms and courses of action.
Do also read our useful tips.
Dentists and GPs who suspect that you have an autoimmune blistering disease should refer you to a specialist, usually a dermatologist, or an oral medicine specialist, as soon as possible. This should be done quickly but be prepared for a longer wait than guidelines recommend.
You can ask to be referred to a clinician of your choice within your own country (England, Northern Ireland, Scotland, and Wales). Do your homework and check out which specialists have experience of pemphigus or pemphigoid. Their details could say “inflammatory skin disease”, “autoimmune disease” or something similar. It is strongly advised that you see someone who is familiar with up-to-date practices and treatments for these diseases. The NHS referral guidelines can be found here.
As soon as you have your appointment, prepare. Think about the questions you want to ask and don’t be afraid to take a notebook or paper to remind yourself of the things you want to cover and take notes of what the doctor says. You will find a list of possible questions below that might help your preparation.
Being diagnosed
There are several tests that a specialist clinician can perform to confirm what this rare disease can be.
They may vary a little and may not be 100% conclusive. They usually include a blood test and biopsies. The latter are usually taken at the edge of a blister. The tests done on the biopsy should show the layer of skin affected and the probable disease indicated. Blood tests should also show the autoantibodies (the part of your immune system that is causing the damage to your skin and mucous membranes) that are present.
Your consultant may talk about an ELISA (an Enzyme Linked Immunosorbent Assay) or an Indirect or Direct Immunofluorescence test which shows the layers of skin including the blister in a slice through. These tests can confirm the presence of pemphigoid or pemphigus but are not completely reliable and the doctor should take them into account alongside all the symptoms you are presenting with to make a diagnosis.
This is a long term, chronic disease, often requiring an intervention by a number of specialists such as Dermatology, Oral medicine, Ophthalmology, Gynaecology and ENT who should check any effects of the pemphigus/pemphigoid in the relevant body sites. The relationship with your medical team is very important and the follow up should be in partnership. Usual practice, if more than one expert is involved, is for the dermatologist to take the lead. It is, however, possible that your disease is initially identified by another type of specialist.
Some pemphigus and pemphigoid diseases are categorised in various ways to determine the severity. Do ask your consultant how serious your case is.
After diagnosis
Having a diagnosis, although it can be scary, can also give a sense of relief that you know what you are dealing with and how it can be managed.
Hopefully, you are being treated by a medical specialist who has experience of treating your disease and can offer treatment that is appropriate to the level of severity and discomfort you are experiencing.
For moderate to severe cases, steroids are often the first course of action but are not always the best option and you should discuss all the alternatives before embarking on a treatment plan.
PEM lasts a long time. Like many autoimmune diseases, it takes a while to get the blistering, etc under control and, sometimes, to find a treatment which works and doesn’t have too many side effects.
Keeping a journal is very helpful. You don’t need to fill it in daily, like a diary. But do jot down anything that you notice about:
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Your symptoms (a mark out of 10 on seriousness might be helpful)
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The sites and sizes of blistering and the consequences
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Treatments and the effects
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How you are feeling generally
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Foods and supplements that help/make it worse
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Anything that helps ease things
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The results of any tests such as blood analyses
Keep a note of the contact details for your consultant and don’t hesitate to call their secretary if you think you need urgent care.
Consultations
Prepare before your appointment:
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Make a list of topics to bring up with the doctor
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Prioritise the topics
Think about:
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Telling the doctor about any changes in symptoms or changes that have happened
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Bringing the list of medication used for the AIBD disease, for any other issues and those used to mitigate/offset side effects of medication
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Bringing blood work results, x-rays, exam results. These can often be found on the NHS app
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Any difficulties you have in following the prescribed treatment
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Treatment side effects
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Bringing any forms the doctor needs to fill in (certificates, transport costs, etc)
During your appointment:
Ask how many other patients your specialist has treated with pemphigoid or pemphigus.
Start with the listing of the most important topics to discuss.
Ask questions to better understand:
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your autoimmune blistering disease
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the treatment options and their duration
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the necessary examinations you will need to undertake
And:
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Take your journal with you and make sure you cover everything that is happening to you
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Take notes. If you can’t or feel uncomfortable doing so, write what you remember down straight afterwards
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Ask about long term treatments as well as immediate ones
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What are the options for treatment and what is the plan?
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Ask about the possible effects of the treatments
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What happens if you need help in between consultations? Who should you call?
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If you see doctors from different specialisms, make sure you update each specialist you see (especially if they work for different hospital trusts). You should be sent letters following each consultation.
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How will medications be dispensed and repeated (from your GP surgery or hospital)?
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Your next appointment(s): date, location, frequency, etc
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Summary of visit – what are the changes from the previous visit?
Your doctor wants you to leave having understood all the discussion, so don’t feel worried about:
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Asking for the name, email, phone number of a contact person who will accept to answer questions throughout the length of your medical journey
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Putting into your own words what you’ve understood: “If I understood correctly…”
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Repeat in your own words what needs to be done regarding tests, appointments, etc
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Taking notes and/or being accompanied
And do have the confidence to express any:
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Difficulties – financial, at work…
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Worries – life changes, relationships to others, inheritance…
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Expectations – daily care, psychologist’s support, social workers, support groups…
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Life purposes – returning to work, having children, traveling, etc