Wen Fan Hu, MD, PhD; Michael K. Yoon, MD; Natalie Wolkow, MD, PhD
A healthy 37-year-old woman presented for evaluation of left upper eyelid blepharoptosis that had been slowly worsening for several years. The patient was otherwise asymptomatic, and a complete review of systems was negative. The results of her physical examination were notable for left-sided blepharoptosis with a palpable mass of the upper eyelid laterally. Eyelid eversion examination findings showed a yellow nodular lesion along the tarsal conjunctiva (Figure, A). An incisional biopsy was performed. Histopathologic examination results showed amorphous acellular proteinaceous deposits that positively stained with Congo red (Figure, B, inset). Polarized microscopy of the deposits showed apple-green birefringence (Figure, B).
Swan Kang, Mohammad H. Dehabadi, Geoffrey E. Rose, David H. Verity, Sepideh Amin & Raja Das-Bhaumik
Purpose: To investigate the natural history of ocular adnexal and orbital amyloidosis.
Methods: In a retrospective, non-comparative case series, the clinical records of patients with biopsy-proven ocular, adnexal, and orbital amyloidosis managed at our institution between 1980 and 2016 were evaluated.
Results: Forty-one patients (29 female; 71%) were identified. The mean interval from presentation to diagnosis was 24 months (median 12 months, range 1–84 months). Whilst most patients presented with a conjunctival mass (34/41; 83%) or ptosis (15/41; 37%), the diagnosis was not immediately evident in all – two patients had 3 ptosis operations prior to obtaining a tissue biopsy that revealed amyloid deposition. Three-quarters (31/41; 76%) of patients had localised primary ocular adnexal and orbital amyloidosis, 4 (10%) had associated systemic disease, and 6 (15%) were found to have underlying haematological malignancy on further investigation. During a mean follow-up of 8 years (median 7 years; range 6 months – 36 years), 2 (5%) patients lost vision, 21 (51%) had surgical intervention other than biopsy, and 2 (5%) had local radiotherapy for amyloid deposition secondary to lymphoproliferative disease.
Conclusions: The varied presentations of ocular adnexal and orbital amyloidosis and the need for confirmatory biopsy often leads to a significant delay between first symptoms and diagnosis. While rarely sight-threatening, ocular adnexal and orbital amyloidosis carries significant morbidities and has a systemic association in a quarter of patients.
Alexander D. Blandford, Sari Yordi, Saloni Kapoor, Gabrielle Yeaney, Claudiu V. Cotta, Jason Valent, Julian D. Perry, Arun D. Singh
Ocular adnexal amyloidosis (OAA) may represent localized manifestation of an underlying systemic process. Accurate identification of the amyloid fibrils can guide the systemic evaluation and treatment. The aim of this study was to characterize subtypes of OAA using immunohistochemistry and mass spectrometric analysis and to correlate with ocular involvement and systemic association.
Retrospective case series.
Review of patients with OAA subtyped by immunohistochemistry and mass spectrometric analysis at the Cleveland Clinic from June 1995 to June 2017.
While immunohistochemistry identified AL amyloid protein in 67% (4/6) of specimens tested, mass spectrometry identified AL amyloid protein in all specimens (10/10). AL lambda was identified in 5 (50%) samples, kappa in 3 (30%), and both kappa and lambda light chains in 2 (20%). The 5 cases of conjunctival amyloidosis were either AL lambda only (3 cases) or both lambda and kappa (2 cases). There were 3 cases that had associated systemic involvement. Two of these had eyelid skin involvement and AL kappa amyloidosis and the other patient had uveal involvement and AL lambda amyloidosis.
Primary amyloidosis-AL is the most common form diagnosed by mass spectrometric analysis in patients with OAA. Immunohistochemistry is ineffective in the characterization of the amyloid deposits in a significant number of cases. Evaluation to exclude systemic involvement or associated underlying lymphoproliferative disorder is warranted.