Early diagnosis may permit successful treatment with only low levels of medication. Consult a dermatologist or oral medicine specialist if there are any persistent skin or mouth lesions. Because they are so rare, pemphigus and pemphigoid are often the last disease considered during diagnosis.

For a definite diagnosis, doctors should consider:

  • Clinical presentation — visual examination of skin or oral lesions.
  • Lesion biopsy — a sample of the blistered skin is removed and examined under the microscope. Additionally, the layer of skin in which cell-to-cell separation occurs can be determined.
  • Direct immunofluorescence — the skin sample is treated to detect desmoglein antibodies in the skin. The presence of these antibodies indicates pemphigus.
  • Indirect Immunofluorescence or antibody titer test. This measures desmoglein autoantibodies in the blood serum. It may be used to obtain a more complete understanding of the course of the disease.
  • ELISA A serum assay for desmoglein antibodies, known as ELISA, is also available. Although in many cases there is a correlation between ELISA and disease activity it is not so in every case.

Please note that immunoflourescent testing (testing for circulating antibodies) for MMP is highly unreliable and is negative in the majority of cases. It is important to obtain positive direct immunofluorescence results (biopsies), even if it requires repeat biopsies because it can mimic other diseases such as lichen planus.

Barriers to Early Diagnosis

Pemphigus and pemphigoid (P/P) each affect fewer than 50,000 people in the United States, classifying these disorders as rare diseases. P/P are often not on the radar of medical professionals, who are unaccustomed to seeing P/P in practice.

Due to their rarity, it is common for medical professionals to overlook P/P in their differential diagnoses. According to IPPF data collected in 2011, 46% of patients (n=52) who saw a dentist reported that their dentist was not knowledgeable about P/P symptoms and performed no action relevant to P/P. The IPPF strives to educate dental professionals and students about P/P, exposing them to continuing education opportunities and patient testimonials.

P/P patients are often misdiagnosed as having a more common illness that is seen more frequently by medical and dental professionals. Clinically, P/P can mimic other oral inflammatory conditions, such as lichen planus, candidiasis, and periodontal disease. The most common misdiagnoses of P/P are erythema multiforme, herpes simplex virus, and candida. Many oral diseases can have similar appearances. A biopsy and immunofluorescent studies are needed to achieve a correct diagnosis.

Dentists considering PV/MMP in their differential diagnosis should perform a biopsy or make a referral to a dental specialist experienced in performing biopsies of vesiculobullous lesions. Unfortunately, patients are not always referred to the appropriate provider, delaying diagnosis. Patients often see five or more providers before receiving a correct diagnosis. Throughout this process, patients are delaying correct treatment, and many experience worsening symptoms.

Consequences of Delayed Diagnosis

Delayed diagnosis of PV/MMP may:

  • Increase patient pain and suffering
  • Delay treatment
  • Increase a patient’s risk for disease progression to other sites
  • Make it more difficult for a patient to achieve remission
  • Heighten risk for poor treatment response
  • Result in loss of productivity and reduced quality of life
  • Cause uncertainty, fear, and anxiety
  • Result in severe weight loss
  • Increase patient healthcare expenses

To witness many of the consequences of diagnostic delays, watch Becky Strong’s emotional journey toward a pemphigus vulgaris diagnosis. This honest portrayal of a patient’s search for answers emphasizes the importance of the IPPF Biopsies Saves Lives Campaign. Unfortunately, many patients share Becky’s experience. The Campaign strives to change this so that future patients can instead describe a story of early diagnosis.

Diagnostic Pathway Data

In October 2011, KJT Group was commissioned by the IPPF to conduct an awareness and diagnostic pathways survey. Diagnosed pemphigus and pemphigoid (P/P) patients (N=87) completed a 15-minute online survey. Of patients surveyed, 25.3% were male and 74.7% were female. The average age of patients surveyed was 55 years, with 67.8% having pemphigus and 32.2% having pemphigoid. Roughly half (54%) of patients were diagnosed within the last 12 months and 46% were diagnosed within the last 12-36 months. All patients were from the United States.

  • Almost 80% of patients sought medical attention within the first three months of symptom onset.
  • The majority (63.2%) of patients’ initial symptoms were lesions in and/or on the mouth, lip, gums, or throat.
  • Dentists were one of the top clinicians seen first, with 23% of patients seeing a dentist as their first clinician. Almost half of patients (46%) saw a dentist at some point regarding their symptoms.
  • On average, patients saw five healthcare providers in pursuit of a correct diagnosis, and 10% reported seeing more than 10 healthcare providers.
  • On average, it took patients 10 months to achieve a correct diagnosis.
  • More than half of patients reported extreme difficulty in finding a doctor knowledgeable enough to accurately diagnose (56%) and effectively treat (51.2%) their condition.
  • Of patients who saw a dentist, almost half (46%) reported they were not knowledgeable about their P/P symptoms and performed no action relevant to their P/P. Forty percent reported being referred to another healthcare provider, and 13% said they received a diagnosis.
  • The majority (83%) of patients reported having a negative experience when seeking a diagnosis.
  • More than half (60.1%) of patients felt the time it took them to be diagnosed was too long.
  • Almost all patients (96.6%) were unaware of P/P prior to their diagnosis.
  • When asked to indicate the one emotion that best described their experience from the time symptoms appeared to be receiving an accurate diagnosis, 49.4% of patients said “frustrated”; 18.4% said “anxious”; and 11.5% said “confused.” Only 1.1% said “satisfied.”

Another study, published in December 2000 by Dr. David Sirois, et al.* surveyed 99 PV patients and found that 80% of patients experienced oral lesions as the first sign of PV, and 24% of patients only experienced oral lesions. Oral PV was less commonly recognized than cutaneous PV, with diagnostic delays commonly being greater than six months in duration.

*Sirois, D. et al., 2000. Archives of Dermatology. Vol 136. “Diagnostic Patterns and Delays in Pemphigus Vulgaris: Experience with 99 Patients.”