Refractive and Blindness-Associated Mucous Membrane Pemphigoid

Original Article: Characteristics Associated With Refractory Course, Blindness, and Treatment Strategy–Related Outcomes in Patients With Mucous Membrane Pemphigoid

What are the key takeaways of this article?

Mucous membrane pemphigoid (MMP) is a rare heterogenous autoimmune blistering disease characterized by subepithelial blister formation on mucosal surfaces. MMP can present with or without cutaneous involvement. Classical findings of MMP include inflamed and eroded mucosa most commonly involving the oral cavity but also seen in ocular conjunctiva, nose, pharynx, larynx, esophagus, anus, and genital mucous membranes. Blindness is one of the most severe results of the disease. Scarring is common in MMP and is a distinguishing factor between MMP and bullous pemphigoid. Patients with MMP often have several associated comorbidities including neurological disorders such as multiple sclerosis, Parkinson disease, dementia, bipolar disorder, and stroke, as well as malignancies. The disease characteristically runs a chronic and progressive course, but because of its rarity, not much is known about patient characteristics associated with disease course or complications.

This paper is a retrospective cohort study of consecutive patients at two tertiary referral centres who were diagnosed with MMP and followed up for more than one year from 2007 to 2020. This study aimed to determine characteristics of MMP associated with refractory disease course and blindness. This study analyzed data from 121 treatment-refractory patients in two German centers. Refractory disease was defined by the following three criteria: “(1) high relapse frequency of 1 or more relapses per year; (2) any rapid release occurring within less than 2 months; (3) absence of complete remission at any time point throughout follow-up.” Visual acuity of less than 3/60 defined blindness, following International Classification of Diseases Revision 11.

Within the study, 56 of 121 patients (46.3%) were identified as having refractory disease, and 23 patients (19%) did not achieve complete remission during the time of the study. Patients with indirect immunofluorescence findings (positive anti-LAD-1 IgA and/or anti-DEJ IgG on salt-split human skin) were significantly more likely to develop a refractory course of MMP. Thirteen patients (10.7%) developed severe visual impairment or blindness. Several characteristics were associated with blindness, including older age, bilateral ocular involvement, and scarring ocular lesion and presentation.

Ultimately, these findings suggest that patients with anti-LAD-1 IgA and anti-DEJ IgG reactivity, older age, bilateral ocular disease, and scarring ocular lesions at presentation should be screened for refractory MMP and blindness.

Publication Date: July 15th, 2023

Reference: Kridin K, van Beek N, Bühler E, et al. Characteristics Associated With Refractory Course, Blindness, and Treatment Strategy–Related Outcomes in Patients With Mucous Membrane Pemphigoid. JAMA Dermatol. 2023;159(2):198–203. doi:10.1001/jamadermatol.2022.5829

Summary By: Christine C. Moon