Disease Description (Causes and Symptoms)
- Disease identification: Medically classified as Pemphigus (Korean name: cheonpochang, synonyms: pemphigus, pemphigus disease), this is an autoimmune epidermolytic blistering disease.
- Causes/pathophysiology: The patient's autoantibodies (primarily IgG) bind to adhesion proteins (mainly desmoglein 1 and 3) that connect epidermal cells in the skin and mucous membranes, disrupting intercellular adhesion (acantholysis) and causing blisters to form within the epidermis. Some cases may be associated with drug induction or an underlying malignancy.
- Main symptoms: Numerous easily ruptured (flaccid) blisters and erosions (ulcers), pain and difficulty swallowing due to mucosal involvement (especially oral), and a positive Nikolsky sign (epidermal detachment caused by pressure/rubbing). Clinical types include pemphigus vulgaris, pemphigus foliaceus, and pemphigus vegetans. It may be induced by medications (e.g., penicillamine, captopril).
Treatment Methods
- First-line standard treatment
- Systemic corticosteroids (e.g., prednisone) to suppress acute inflammation and autoantibody production → symptom control.
- In recent standards/recommendations, early use of a biologic agent (rituximab, anti-CD20) in combination with corticosteroids is often recommended because of its high remission rate and steroid-sparing effect.
- Steroid adjunctive/substitute agents (for steroid-sparing purposes)
- Immunosuppressants: azathioprine (AZA), mycophenolate mofetil (MMF), cyclophosphamide, etc.
- Biologic agent: rituximab — currently a key treatment option for severe or recurrent pemphigus.
- Conservative and supportive treatment
- Intravenous immunoglobulin (IVIG): Used as an adjunct in patients who respond poorly to conventional treatment.
- Plasmapheresis: Considered in severe cases requiring rapid removal of high-titer autoantibodies.
- Topical treatment: Topical corticosteroids, wound care, and infection prevention (consider topical and systemic antibiotics).
- Pain and nutritional management: Dietary assistance and nutritional counseling are necessary when oral lesions are severe.
- Preventive and monitoring co-treatment
- Prevention of osteoporosis due to long-term corticosteroid use (calcium and vitamin D, and bisphosphonates if necessary), along with prevention and monitoring of diabetes, hypertension, and gastrointestinal bleeding.
- When using immunosuppressants, monitor for infection, bone marrow suppression, and liver and kidney function (regular blood tests).
- Infection risk assessment, including hepatitis B and tuberculosis testing, is necessary before rituximab.
- Consider Pneumocystis pneumonia (PCP) prophylaxis (e.g., TMP-SMX) with high-dose or long-term immunosuppression.
Checklist Before an Outpatient Visit (What to Prepare and Examples of Questions)
- Materials/documents to prepare
- A list of all medications currently being taken (including prescription and nonprescription drugs, herbal medicines, and supplements)
- Recent test results (blood tests, liver and kidney values, recent biopsy and immunofluorescence findings) and a summary of medical history
- Photos of the lesions (comparison between onset and progression is helpful if available), and notes on when symptoms began and how they progressed
- Records of recent weight changes and systemic symptoms such as fever, shortness of breath, and difficulty swallowing
- Possible items to request for examination/testing
- Skin biopsy (histology), direct and indirect immunofluorescence testing (DIF/IIF), anti-desmoglein 1/3 antibodies (ELISA)
- CBC, liver and kidney function, electrolytes, hepatitis B and C testing, and tuberculosis screening (before using biologic agents)
- Examples of questions to ask yourself at the outpatient visit
- Could any of the medications I am currently taking, especially a newly started medication, have caused the disease?
- What are the treatment goals (complete remission/partial remission), and what is the expected treatment duration?
Examples of General Questions to Ask the Doctor
- What are the major side effects of this medication (e.g., corticosteroids, azathioprine, rituximab), and what tests are used to monitor them?
- When can I expect my symptoms to improve with treatment? What is the average time to maintaining remission?
- What preventive measures should I take for long-term corticosteroid use (osteoporosis, infection, etc.)?
- How should I manage daily activities (work and exercise) and vaccinations (especially live vaccines) during immunosuppressive treatment?
Examples of Disease-Specific Questions
- Could my current medications (e.g., penicillamine, captopril) have caused pemphigus? How likely is it that my symptoms will improve if I stop the medication?
- Is rituximab (anti-CD20) treatment appropriate for my case? What are the expected benefits and risks (risk of infection, need for vaccination, etc.)?
(Additional items requiring review during medical consultation: pregnancy and breastfeeding plans, infection screening before using biologic agents, the need for PCP prophylaxis, and the possibility of tracking treatment response with antibody testing (anti-desmoglein))