Note: x3 (three) 1mL plain micro collect (Microsample Serum) tubes required when 3.5mL SST or 4mL Plain serum samples not available.
Not detected : Normal result (all tests)
Frequency of testing: Once per week
Pemphigus vulgaris and bullous pemphigoid are the archetypal conditions in a spectrum of autoimmune bullous diseases which include pemphigus vegetans, pemphigus herpetiformis, neonatal pemphigus, pemphigus foliaceus (sporadic and endemic), pemphigus erythematosus (Senear-Usher syndrome), pemphigus herpetiformis, paraneoplastic pemphigus, linear IgA dermatosis, pemphigoid gestationalis, mucous membrane pemphigoid, dermatitis herpetiformis, AND epidermolysis bullosa acquisita.
The two main structural proteins targeted by autoantibodies in these diseases are desmosomes (pemphigus) and hemidesmosome (pemphigoid). Autoantibodies directed at these targets leads to loss of adhesion between the keratinocytes and between the keratinocytes and the underlying dermis, respectively.
Basement membrane zone (BMZ) antibodies (BP180 and BP230) are seen in patients with bullous pemphigoid and associated diseases.
Intercellular cement substance (ICS) antibodies (desmoglein 1 and desmoglein 3) are seen in patients with pemphigus vulgaris and associated diseases (pemphigus foliaceus, paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome (PAMS).
Pemphigus
Pemphigus is a group of, in some cases, life-threatening blistering disorders characterized by acantholysis (loss of keratinocyte to keratinocyte adhesion) that results in the formation of intraepithelial blisters in mucous membranes and skin.
There are 4 main subtypes of pemphigus each with their own characteristic clinical features and autoantibody profiles:
-
Pemphigus vulgaris
-
Variants: Pemphigus vegetans, pemphigus herpetiformis, neonatal pemphigus
-
-
Pemphigus foliaceus
-
Variants: Endemic pemphigus foliaceus (fogo selvagem), pemphigus erythematosus (Senear-Usher syndrome), pemphigus herpetiformis
-
-
Immunoglobulin A (IgA) pemphigus
-
Subtypes: Subcorneal pustular dermatosis-type IgA pemphigus (distinct from classic subcorneal pustular dermatosis [Sneddon-Wilkinson disease]), intraepidermal neutrophilic IgA dermatosis
-
-
Paraneoplastic pemphigus
Bullous Pemphigoid
Bullous pemphigoid and mucous membrane pemphigoid (MMP) are uncommon autoimmune subepithelial blistering diseases that most frequently arise in older adults and are characterized by the presence of cutaneous bullae and erosive mucosal lesions.
Subtypes of bullous pemphigoid are mucous membrane pemphigoid (MMP), anti-laminin 332 pemphigoid (also known as anti-epiligrin cicatricial pemphigoid), pemphigoid gestationis, Brunsting-Perry pemphigoid, and anti-laminin gamma-1 (anti-p200) pemphigoid
Pemphigus-related antibodies available at LabPLUS
Desmoglein 1 antibodies
Clinical associations
-
Pemphigus foliaceus
-
Mucocutaneous pemphigus vulgaris
Desmoglein 3 antibodies
Clinical associations
-
Mucosal and mucocutaneous (when occurs with desmoglein 1 antibodies) pemphigus vulgaris
-
Paraneoplastic pemphigus/Paraneoplastic autoimmune multiorgan syndrome (PAMS) (Usually negative, antibodies against desmoplakins more common)
Pemphigoid-related antibodies available at LabPLUS
BP-180 antibodies
Clinical Associations
-
Bullous Pemphigoid (54% cases alone or up to 88% if combined with BP-230)
-
Pemphigoid gestationalis
-
Mucous membrane pemphigoid (less commonly found and associated with other autoantibodies that are not routinely available)
BP-230 antibodies
Clinical Associations
-
Bullous Pemphigoid (56% of cases alone or up to 88% if combined with BP-180), if positive but BP-180 antibodies negative, consider non-bullous pemphigoid
-
Mucous membrane pemphigoid (less commonly found and associated with other autoantibodies that are not routinely available)
If other skin-related autoantibodies that are not performed at LabPLUS would be clinically helpful in the diagnostic work-up, please contact the Immunopathologist on call or ring the immunology laboratory for further discussion. Alternatively email immunology@adhb.govt.nz
Skin related autoantibodies should generally only be ordered by dermatologists and oral medicine specialists. They are most clinically useful when the diagnosis of a particularly bullous skin disorder is not clear from clinical features, histology and direct immunofluorescence.
References
-
Use and Interpretation of tests in Clinical Immunology. Peter, J.B. Eighth Edition, 1991. Specialty Laboratories, USA
Up To Date 2023 -
Keller et al Arch Dermatol Res (2016) 308:269?272
-
Autoimmune Bullous disease (2016) Editor: Jonkman
-
Blistering Diseases: Clinical Features, Pathogenesis, Treatment (2015) Editor: Murrell
Dr. Richard Steele
Dr. Rohan Ameratunga
immunology@adhb.govt.nz