Bilateral Non-arteritic Anterior Ischaemic Optic Neuropathy as the Presentation of Systemic Amyloidosis

Kanaan, M Z; Lorenzi, Alice; Thampy, Neelima; Pandit, Ranjeet; Dayan, Margaret

doi:10.1080/01658107.2017.1328604

Cited by 13 publications

(8 citation statements)

References 10 publications

(14 reference statements)

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“…In our study, a high sensitivity of US reaching 81.98% (95% CI 73.55-88.63%) and specificity of 99.43% (95% CI 96.88-99.99%) was demonstrated. Although our study confirmed a high specificity of US for the diagnosis of GCA, it must be kept in mind that the halo sign has been described in patients with TA involvement due to other diseases, including anti-neutrophil cytoplasm antibodies (ANCA)-associated vasculitis, amyloidosis, and neoplasms, therefore, the US findings must in all cases be correlated with the clinical scenario [18][19][20]. The early referral of patients with suspected GCA to a FTA clinic is critical to prevent acute complications, such as permanent visual loss [6,7,21].…”

Section: Discussionsupporting

confidence: 74%

A New Era for the Early and Non-Invasive Diagnosis of Giant Cell Arteritis: The Use of Fast-Track Ultrasound in Clinical Practice

Monti

Montecucco

2022

Applied Sciences

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Background: The assessment of giant cell arteritis (GCA) in fast-track assessment clinics (FTA) including the use of ultrasound (US) is becoming the preferred practice in specialized centers. Methods: Patients with suspected GCA referred to the FTA of the Rheumatology Department, University of Pavia, Italy, between 2016 and 2021 were included to analyze the clinical and US findings. Results: A total of 553 US examinations were performed on 347 patients. A total of 246 were female (71%), and the mean age was 73 ± 12. Of these, 287 US on newly referred patients led to a confirmed diagnosis of GCA in 111 (39%). The sensitivity of US was 81.98% (95% CI 73.55–88.63%), and the specificity 99.43% (95% CI 96.88–99.99%). Only 4 patients required temporal artery biopsy. The most specific symptoms to inform the pre-test probability of GCA and differentiate from patients with other conditions were: jaw or tongue claudication, scalp tenderness, and bilateral visual loss. Headache was not reported in 33% of patients. Systemic symptoms were significantly more frequent in GCA (42.3%), together with combinations of cranial, systemic, and/or polymyalgia rheumatica symptoms. Out of 88 patients, there were 52% with a confirmed relapse. Of these, 67% had a positive US. Conclusion: The use of FTA in clinical practice ensures an early diagnosis, avoiding invasive procedures for the patient. Our data support the increasingly recognized adjunctive role of US in the monitoring of GCA.

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Section: Discussionsupporting

confidence: 74%

A New Era for the Early and Non-Invasive Diagnosis of Giant Cell Arteritis: The Use of Fast-Track Ultrasound in Clinical Practice

Monti

Montecucco

2022

Applied Sciences

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“…The final cases included, representing 32 patients over 50 years of age, are summarized in Table 1. The most common finding (19 cases) in the temporal artery biopsy from these reports was the deposition of eosinophilic material with positive staining for Congo-red, indicating amyloidosis 9–23 . In some cases, the amyloid was not readily apparent on the temporal artery biopsy, and only after a second review with Congo-red staining was the amyloid obvious, 19 and in other cases there were findings suggestive of both GCA and amyloid deposition from multiple myeloma, indicating that the two diagnoses can sometimes co-exist 9,21 .…”

Section: Resultsmentioning

confidence: 92%

Masquerades of Giant Cell Arteritis Evident on Temporal Artery Biopsy

2019

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G iant cell arteritis (GCA) is a systemic vasculitis that affects large-and medium-sized blood vessels in patients over 50 years of age. 1 Patients with GCA typically present with systemic symptoms such as headache, fatigue, fever, jaw claudication, scalp tenderness and vision changes. The gold standard for establishing the diagnosis of GCA is a temporal artery biopsy, which helps confirm the diagnosis and justify long-term corticosteroids in patients who are frequently elderly with significant medical comorbidities and who may experience substantial steroid-related side effects. 2 Signs of GCA seen on temporal artery biopsy include a panarteritis consisting of infiltrates of T-lymphocytes, macrophages, epithelioid histiocytes and multinucleated giant cells, often most pronounced in the media and centered near the internal elastic lamina, with fragmentation of the internal elastic lamina, intimal hyperplasia, and near or complete occlusion of the temporal artery lumen. 2 These signs may be present even after treatment with corticosteroids. 3 Temporal artery biopsy may not only confirm the diagnosis of GCA, but may also identify atypical histopathological signs that suggest another diagnosis. These signs include fibrinoid necrosis, inflammation confined to the adventitia, numerous eosinophils or neutrophils, or abnormal deposits such as amyloid. 4 These atypical signs would not be evident on alternative, non-invasive methods of assessing the superficial temporal artery such as color-duplex ultrasonography or contrast-enhanced, high-resolution magnetic resonance imaging (MRI), which have been suggested as replacements for temporal artery biopsy in typical cases. 5,6 The specificity of ultrasound and high-resolution MRI have been reported to be 78-100% and 73-97%, respectively, for GCA. 5 Given that the necessity of temporal artery biopsy in the diagnosis of GCA has been questioned, 5,7,8 we present three cases of patients who presented with visual and systemic symptoms suggestive of GCA who underwent temporal artery biopsy, which revealed an alternative diagnosis to GCA and dramatically altered the patient's treatment and clinical care.

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“…Optic neuropathy or other optic nerve involvement has not been previously reported in association with gelsolin amyloidosis, however, bilateral consecutive anterior ischemic optic neuropathy has been documented in patients with the sporadic light-chain amyloidosis [ 21 , 22 ]. The possible amyloid mechanisms underlying optic nerve edema include direct optic nerve infiltration with amyloid or amyloid deposition in the arterial walls perfusing the optic nerve, causing stenosis and reduced adaptability to systemic blood pressure changes.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

Potrč

Volk

Rosa

et al. 2021

IJMS

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Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous GSN variant p.Glu580Lys was identified in six patients. The patients exhibited corneal dystrophy (5/6), loose skin (5/6) and/or heart arrhythmia (3/6) and one presented with bilateral optic neuropathy. The impact of the mutation on the protein structure was evaluated in silico. The substitution is located in the fifth domain of gelsolin protein, homologous to the second domain harboring the most common pathogenic variant p.Asp214Asn. Structural investigation revealed that the mutation might affect protein folding. Histopathological analysis showed amyloid deposits in the skin. The p.Glu580Lys is associated with corneal dystrophy, strengthening the association of the fifth domain of gelsolin protein with the typical amyloidosis phenotype. Furthermore, optic neuropathy may be related to the disease and is essential to identify before discussing corneal transplantation.

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Bilateral Non-arteritic Anterior Ischaemic Optic Neuropathy as the Presentation of Systemic Amyloidosis

Cited by 13 publications

References 10 publications

A New Era for the Early and Non-Invasive Diagnosis of Giant Cell Arteritis: The Use of Fast-Track Ultrasound in Clinical Practice

A New Era for the Early and Non-Invasive Diagnosis of Giant Cell Arteritis: The Use of Fast-Track Ultrasound in Clinical Practice

Masquerades of Giant Cell Arteritis Evident on Temporal Artery Biopsy

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

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