Received: 23 August 2023 Revised: 31 October 2023 Accepted: 8 November 2023

DOI: 10.1002/jca.22098

BRIEF REPORT

Therapeutic plasma exchange in refractory Susac's

syndrome: A brief report

Ryan D. Salazar 1 | Krystol R. Weidner 2 | Caroline R. Alquist 2

1
University of Cincinnati College of
Medicine, Cincinnati, Ohio, USA
2
Hoxworth Blood Center, University of
Cincinnati, Cincinnati, Ohio, USA
Correspondence
Caroline R. Alquist, Hoxworth Blood
Center, University of Cincinnati,
Cincinnati, OH, USA.
Email: raaschce@ucmail.uc.edu
Abstract
Susac's syndrome (SuS) is an autoimmune endotheliopathy that typically
presents with the clinical triad of encephalopathy, hearing loss, and branch
retinal artery occlusion. It has a wide range of possible presentations, and its
pathogenesis remains uncertain. Fulminant and refractory cases are difficult
to treat, and no standard treatment protocol has been established. However,
therapeutic plasma exchange (TPE) has been described as an adjunctive
therapy in several SuS cases. Herein we present a case of a 63-year-old male
with debilitating encephalopathy and recent hearing and vision loss, who
responded favorably to TPE. Given this and other published reports of
plasma exchange therapy for SuS, treatment protocols should consider TPE
in early stages of disease.

KEYWORDS
plasma exchange, Susac, Susac's syndrome, TPE, treatment

1 | INTRODUCTION radiologic features may or may not be present.8 Reported

Susac's syndrome (SuS), is a rare endotheliopathy1 with
an estimated prevalence of 400 cases worldwide, which
may be under-representative due to the difficulty of diag-
nosis.2,3 SuS is frequently characterized by the clinical
triad of encephalopathy, hearing loss, and branch retinal
artery occlusion (BRAO), that most commonly presents
in women in the third and fourth decade of life.1,2 Pre-
sentation is variable, making diagnosis difficult.2 Symp-
toms have classically been attributed to inflammatory
mediators or autoantibodies such as anti-endothelial cell
IgG1 antibodies (AECA)4,5; however, recent data from
Gross et al. demonstrated a possible role in disease patho-
genesis by CD8+ cytotoxic T-cells.3 A typical workup
includes CNS imaging, to visualize the typical callosal
features,6,7 angiography of the retina for assessment of
BRAOs, and vestibulocochlear testing. These classic
treatments include immune-modulating therapies such
as corticosteroids, IVIG, cyclophosphamide, and rituxi-
mab.5,6 In fulminant or refractory cases, therapeutic
plasma exchange (TPE) may be considered as adjunctive
therapy,7,9 though no agreed-upon treatment protocol
exists.7 This disease is typically self-limited, but early
diagnosis and treatment may prevent blindness, deafness,
and major cognitive disorder.7
2 | CASE
A 63-year-old male presented to the emergency department
in early 2023, bed-ridden and minimally responsive, 6 days
after a seizure. At baseline, he is fully oriented, alert, inter-
active, and ambulatory with a cane. He has a history of sus-
pected prior Anti-N-methyl-D-aspartate receptor (NMDAR)

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© 2023 The Authors. Journal of Clinical Apheresis published by Wiley Periodicals LLC.

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https://doi.org/10.1002/jca.22098

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encephalitis in 2013, treated with TPE and IVIG, and subse-
quent recurrent focal seizures with impaired consciousness.
Prior 14-3-3 protein testing results were indeterminate and
non-supportive of a Creutzfeldt-Jakob diagnosis. Addition-
ally, his wife reports he has had progressive vision and
hearing loss over the past 4 to 5 months.
At admission, he was arousable to touch but nonver-
bal. Once admitted, he was found to have fluctuating ori-
entation and alertness, and waxing and waning left-sided
hemiparalysis. Initial treatment consisted of corticoste-
roids, antiepileptics, and antibiotics to address potential
infectious etiologies. CT and MRI assessments of his head
showed no acute abnormalities and no callosal lesions,
and anti-NMDA-R antibody testing was negative. A con-
tinuous EEG showed mild background slowing without
epileptiform activity. Given the minimal response to
medical therapies and history of encephalopathy respon-
sive to plasma exchange, TPE was initiated.
3 | METHODS
IRB approval was not required for this report. The esti-
mated plasma volume was 3300 mL. A single volume TPE
was performed on a TerumoBCT (Lakewood, Colorado),
Spectra Optia, V12.0.3 through a central venous catheter.
Single-volume TPE was performed daily for five consecu-
tive days using 5% albumin as the sole replacement fluid
on days one and two. On days three through five, 5% albu-
min with 500 mL of fresh frozen plasma was used to com-
plete the single-volume exchange to maintain coagulation
parameters. ACD-A was used as the anticoagulant.
4 | R E SUL T S
Following the second TPE, the patient was responsive to
name but had difficulty remaining alert. Following the
fourth treatment, he woke spontaneously and was able to
follow simple commands and answer simple questions. He
became oriented to self, place, and month. Following the
final treatment, he was nearing his baseline function, only
with fatigue and inability to remember the previous week.
5 | DISCUSSION
TPE may be an effective method for the treatment of SuS.
There are no recommendations included in the 9th Spe-
cial Issue of the ASFA guidelines for treatment of SuS.10
In a retrospective study of nine patients who underwent
TPE for SuS, eight of nine patients showed symptomatic
improvement or disease stabilization, with the last
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SALAZAR ET AL.
patient lost to follow-up.9 Plasma exchanges are an effec-
tive means of removing inflammatory mediators and
both IgM and IgG autoantibodies. Although once a prom-
ising marker of disease, AECAs have now been charac-
terized in several systemic autoinflammatory conditions
making specificity questionably reliable.4,5 Cytotoxic T-
cells, which are not removed in TPE, may also contribute
to pathogenesis, in concert with soluble mediators. This
mutlifactorial etiology does not preclude the use of TPE
in disease modification.
6 | CONCLUSION
SuS is a rare autoimmune disease with potentially devas-
tating outcomes and few reliable treatment options. TPE
should be considered for treatment to control and pre-
vent symptom progression. More research and reports
are needed to fully understand its long-term efficacy.
F U N D I N G IN F O R M A T I O N
This research received no specific grant from any funding
agency in the public, commercial, or not-for-profit sectors.
C O N F L I C T O F I N T E R E S T S T A TE M E N T
All authors declare that they have no conflicts of interest.
DA TA AVAI LA BI LI TY S T ATE ME NT
Data sharing is not applicable to this article as no new
data were created or analyzed in this study.
PA T IE N T CO N S E N T S TA TE M EN T
Verbal patient consent for publication obtained via
telephone.
ORCID
Caroline R. Alquist https://orcid.org/0000-0001-9352-
2585
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