-
Brain : a Journal of Neurology Apr 2022Susac syndrome is a disorder thought to be mediated by an autoimmune response towards endothelial cells, leading to a characteristic clinical triad of encephalopathy,... (Review)
Review
Susac syndrome is a disorder thought to be mediated by an autoimmune response towards endothelial cells, leading to a characteristic clinical triad of encephalopathy, visual disturbances due to branch arterial occlusions and sensorineural hearing impairment. Although it is a rare disease, three reasons make it important. First, given its variable presentation, Susac syndrome is underdiagnosed. Second, it is considered an important differential diagnosis in different neurological, psychiatric, ophthalmological and hearing disorders, and consequently is frequently misdiagnosed. Third, in many cases, Susac syndrome is diagnosed and treated late, with significant irreversible sequelae including dementia, blindness and hearing loss. Neuropathology findings derived from both Susac syndrome patient tissue and novel transgenic mouse models indicate cytotoxic CD8+ T cells adhere to microvessels, inducing endothelial cell swelling, vascular narrowing and occlusion, causing microinfarcts. Anti-endothelial cell antibodies are present in serum in 25% of Susac syndrome patients, but it is unclear whether they are aetiologically related to the disease, or an epiphenomenon. The clinical triad comprising encephalopathy, branch arterial occlusions, and sensorineural hearing impairment is considered pathognomonic, although great variability is found in presentation and natural course of disease. At first evaluation, only 13-30% of patients exhibit the full clinical triad, making diagnosis difficult. Retinal fluorescein angiography, optic coherence tomography, MRI and tonal audiometry are helpful methods for diagnosing and monitoring disease activity during treatment. By contrast, there are no reliable objective immune markers to monitor disease activity. Immunosuppression is the current treatment, with high-dose corticosteroid therapy as the mainstay, but additional therapies such as intravenous immunoglobulins, cyclophosphamide, rituximab and mycophenolate mofetil are often necessary, because the disease can be devastating, causing irreversible organ damage. Unfortunately, low rates of disease, variability in presentation and paucity of objective biomarkers make prospective controlled clinical trials for Susac syndrome treatment difficult. Current immunosuppressive treatments are therefore based on empirical evidence, mainly from retrospective case series and expert opinion. In this review, we draw attention to the need to take consider Susac syndrome in the differential diagnosis of different neurological, psychiatric, ophthalmological and hearing disorders. Furthermore, we summarize our current knowledge of this syndrome, in reference to its pathophysiology, diagnosis and management, emphasizing the need for prospective and controlled studies that allow a better therapeutic approach.
Topics: Animals; Brain Diseases; Diagnosis, Differential; Endothelial Cells; Hearing Disorders; Hearing Loss; Humans; Magnetic Resonance Imaging; Mice; Prospective Studies; Retrospective Studies; Susac Syndrome
PubMed: 35136969
DOI: 10.1093/brain/awab476 -
Neuro-ophthalmology (Aeolus Press) 2020Susac's syndrome is a rare immune-mediated endotheliopathy that mainly affects young women. It is characterised by the presence of encephalopathy, retinal vaso-occlusive... (Review)
Review
Susac's syndrome is a rare immune-mediated endotheliopathy that mainly affects young women. It is characterised by the presence of encephalopathy, retinal vaso-occlusive disease and hearing loss. Diagnosis is based on the clinical presentation, brain magnetic resonance imaging, retinal fluorescein angiography, and audiometry. Treatment consists of immunosuppressive therapy. This review focuses on recent developments in the diagnosis and management of the condition.
PubMed: 33408428
DOI: 10.1080/01658107.2020.1748062 -
Journal of Neurology, Neurosurgery, and... Dec 2016Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment... (Review)
Review
BACKGROUND
Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome.
METHOD
The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012.
RESULTS
Integrating the clinical presentation and paraclinical findings, we propose formal criteria and recommend a diagnostic workup to facilitate the diagnosis of Susac syndrome. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup.
CONCLUSIONS
We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation.
Topics: Adolescent; Adult; Cohort Studies; Delayed Diagnosis; Diagnosis, Differential; Early Medical Intervention; Female; Guideline Adherence; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Male; Middle Aged; Reference Values; Susac Syndrome; Young Adult
PubMed: 28103199
DOI: 10.1136/jnnp-2016-314295 -
Autoimmunity Reviews Jun 2022Susac syndrome is a rare disease characterized by an inflammatory microangiopathy limited to the brain, eye, and ear vessels. It mainly affects young women. Although the... (Review)
Review
Susac syndrome is a rare disease characterized by an inflammatory microangiopathy limited to the brain, eye, and ear vessels. It mainly affects young women. Although the pathophysiology is not fully elucidated, recent advances favour a primitive vasculitis affecting the cerebral, retinal and cochlear small vessels. Diagnosis relies on the recognition of the triad including: 1/subacute encephalopathy with unusual headache and pseudo-psychiatric features associated with multifocal ischemic white matter, grey matter nuclei and specifically corpus callosum lesions along with leptomeningeal enhancement on brain MRI, 2/ophthalmological involvement that may be pauci-symptomatic, with bilateral occlusions of the branches of the central artery of the retina at fundoscopy and arterial wall hyperfluorescence on fluorescein angiography, 3/cochleo-vestibular damage with neurosensorial hearing loss predominating on low frequencies. The full triad may not be present at diagnosis but should be sought repeatedly. Relapses are frequent during an active period lasting approximately 2 years. Eventually, the disease resolves but isolated retinal arterial wall hyperfluorescence without new occlusions may recur, which should not result in treatment intensification. First-line treatment mostly consists of high dose corticosteroids. In refractory patients or in case of relapse, immunomodulatory molecules such as intravenous immunoglobulins or immunosuppressive drugs such as mycophenolate mofetil, cyclophosphamide or rituximab should be started. Sequelae -mostly hearing loss and cognitive impairment- are usually mild but remain frequent in these young patients.
Topics: Brain; Female; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35413469
DOI: 10.1016/j.autrev.2022.103097 -
Deutsches Arzteblatt International Apr 2022
Topics: Brain; Humans; Magnetic Resonance Imaging; Susac Syndrome
PubMed: 35773987
DOI: 10.3238/arztebl.m2022.0059 -
The British Journal of Ophthalmology Sep 2020Susac's syndrome (SS) is a relatively rare cause of multiple recurrent branch retinal arterial occlusions (BRAO). SS is frequently misdiagnosed and probably... (Review)
Review
Susac's syndrome (SS) is a relatively rare cause of multiple recurrent branch retinal arterial occlusions (BRAO). SS is frequently misdiagnosed and probably underdiagnosed. Ophthalmic manifestations may be the sole presenting sign of SS. Comprehensive literature review The typical triad of encephalopathy, sensorineural hearing loss and multiple recurrent BRAO is seldom seen at presentation in SS. The characteristic ophthalmological feature in SS is the presence of recurrent multiple BRAO in the absence of intraocular inflammation. Yellow to yellow-white, non-refractile or refractile retinal arterial wall plaques (Gass plaques) found at midarteriolar segments not associated to bifurcations are commonly found in SS. Because of its ability to capture more peripheral retinal area, ultrawide field fluorescein angiography (FA) has definite advantages over conventional FA and its use should be encouraged in patients suspected of having SS. Optical coherence tomography (OCT), particularly spectral domain OCT complements FA. Patients with BRAO and hearing loss that do not develop encephalopathy during the initial 2 years will most likely not develop encephalopathy. However, these patients will be prone to recurrent BRAO and hearing loss. Imunosuppression is the cornerstone of treatment but the best regimen still needs to be defined. A minority of patients with SS present with the typical triad. A high index of suspicion is needed to make the diagnosis promptly. Early diagnosis and treatment are important to delay disease progression and prevent blindness, deafness and dementia.
Topics: Humans; Retinal Artery Occlusion; Susac Syndrome
PubMed: 32029433
DOI: 10.1136/bjophthalmol-2019-315597 -
Current Pain and Headache Reports Mar 2021Provide an overview of the current diagnosis, pathophysiology, and treatment of Susac's syndrome (SuS), with special emphasis on summarizing what is currently known... (Review)
Review
PURPOSE OF REVIEW
Provide an overview of the current diagnosis, pathophysiology, and treatment of Susac's syndrome (SuS), with special emphasis on summarizing what is currently known about headache as a symptom of disease activity.
RECENT FINDINGS
The most recent literature in SuS has focused on furthering the understanding of the underlying pathology and efficacy of treatments for SuS. The importance of early recognition to facilitate timely treatment and avoid long-term disability has been highlighted. Headache, the most common symptom experienced by patients with SuS, can occur up to 6 months in advance of other symptoms, and exacerbations of headache can herald increased disease activity. Susac's syndrome (SuS) is a rare disorder classically characterized by triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensory neuronal hearing loss (SNHL). The full triad is uncommon at initial presentation, which can confound efforts to make timely diagnosis and treatment decisions. Headache is the most common symptom in SuS, is often an early feature, and can help separate SuS from other diagnoses in the differential. However, the features and management of the headache associated with SuS have not been systematically defined in the literature.
Topics: Disease Progression; Glucocorticoids; Headache; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Immunosuppressive Agents; Susac Syndrome
PubMed: 33738651
DOI: 10.1007/s11916-021-00939-2 -
International Journal of Stroke :... Jul 2020Susac syndrome is an immune-mediated, pauci-inflammatory, ischemia-producing, occlusive microvascular endotheliopathy/basement membranopathy that affects the brain,...
Susac syndrome is an immune-mediated, pauci-inflammatory, ischemia-producing, occlusive microvascular endotheliopathy/basement membranopathy that affects the brain, retina, and inner ear. Treatment of Susac syndrome is particularly challenging. The organs involved can easily become irreversibly damaged, and the window of opportunity to protect them is often short. Optimal outcome requires rapid and complete disease suppression. Adding to the challenge is the absence of objective biomarkers of disease activity and the great variability in presentation, timing and extent of peak severity, duration of peak severity, and natural disease course. There have been no randomized controlled trials or prospective treatment studies. We offer treatment guidelines based on cumulative clinical experience and a large cohort of patients followed longitudinally in a comprehensive database project. These guidelines state our preferences but do allow flexibility and discuss other options. The guidelines also serve as an initial step in the planning of prospective treatment studies, future consensus-based recommendations, and future randomized controlled trials.
Topics: Brain; Humans; Magnetic Resonance Imaging; Prospective Studies; Stroke; Susac Syndrome
PubMed: 29319463
DOI: 10.1177/1747493017751737 -
The Journal of Maternal-fetal &... Jan 2022Susac syndrome is a vasculopathy that affects the central nervous system, mainly the brain parenchyma, retina and inner ear. It affects mainly young women and.... (Review)
Review
BACKGROUND
Susac syndrome is a vasculopathy that affects the central nervous system, mainly the brain parenchyma, retina and inner ear. It affects mainly young women and. Management is based on expert consensus and in pregnant women the treatment is not well established. It is necessary to start treatment early because of its potential severity and sequelae.
METHOD
We present two cases of Susac syndrome related to pregnancy/puerperium and performed a review of the literature.
CONCLUSIONS
Susac syndrome is a disease that requires a high clinical suspicion, especially in pregnant women. Treatment in pregnancy or puerperium is not well established.
PRÉCIS
Susac syndrome is a disease that requires a high clinical suspicion, especially in pregnant women. Treatment in pregnancy or puerperium is not well established.
Topics: Brain; Central Nervous System; Disease Progression; Female; Humans; Magnetic Resonance Imaging; Pregnancy; Retina; Susac Syndrome
PubMed: 31937158
DOI: 10.1080/14767058.2020.1712712 -
Current Opinion in Ophthalmology Nov 2020This review discusses general features and organ-specific presentations of Susac syndrome as well as diagnosis and treatment. (Review)
Review
PURPOSE OF REVIEW
This review discusses general features and organ-specific presentations of Susac syndrome as well as diagnosis and treatment.
RECENT FINDINGS
Latest literature regarding demographics, new diagnostic modalities such as optical coherence tomography and treatment options for Susac syndrome are discussed in detail in this review, summarizing the most recent updated information.
SUMMARY
Susac syndrome is a rare, underdiagnosed, and often misdiagnosed disease that can lead to severe complications such as deafness, vision loss, dementia, and death. It involves the central nervous system and may mimic other neurological and neuro-ophthalmological diseases.
Topics: Brain; Humans; Susac Syndrome; Tomography, Optical Coherence; Vision Disorders
PubMed: 33009082
DOI: 10.1097/ICU.0000000000000713