Highlights
- •Neuromyelitis optica spectrum disorder (NMOSD) is a complex multifactorial disorder in which most cases are sporadic.
- •Familial clustering of NMOSD is more common than would be expected in the general population.
- •The demographic, clinical, and outcome profiles of familial cases were not different from sporadic cases.
- •Our systematic review highlighted complex genetic predisposition to NMOSD.
Abstract
Background
Neuromyelitis optica spectrum disorders (NMOSD) is considered a complex multifactorial
disorder. Most cases are sporadic, and familial NMOSD is assumed as a rare occurrence.
However, few studies reported familial aggregation of the disorder.
Objectives
To report familial NMOSD cases in Thailand and conduct a systematic review of familial
NMOSD.
Methods
A retrospective chart review of familial NMOSD patients at the university hospital
was performed. Articles related to “genetic” and “NMOSD” were systematically searched
and reviewed. We included NMOSD patients whose one or more relatives were diagnosed
with the same disease or multiple sclerosis (MS). Data regarding demographics, clinical
features, disease outcomes, and genetic testing were collected and analyzed using
descriptive statistics.
Results
We identified 6 familial cases from 165 NMOSD cases (3.6%) at our hospital and gathered
77 cases from a systematic review, totaling 83 cases from 40 families. The mean (SD)
age at onset was 37.2 (18.0) years. Familial NMOSD involved 1–2 generations with mainly
2 affected individuals. The most common kinship pattern was siblingship in 21 families
(52.5%). Initial syndromes were mostly optic neuritis and transverse myelitis. Serum
aquaporin-4 IgG was positive in 79.7% of cases. Median number of relapses was 3 (range
1–26). Median expanded disability status scale in the last visit was 2 (range 0–8).
Reported human leukocyte antigens (HLA) alleles shared between familial cases were
HLA-A*01 and HLA-DRB1*03.
Conclusion
Familial clustering of NMOSD is more common than would be expected in the general
population. The demographic, clinical, and outcome profiles of familial cases were
not different from sporadic cases. Certain specific HLA haplotypes were shared among
familial cases. Our systematic review highlighted complex genetic predisposition to
NMOSD.
Keywords
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Article info
Publication history
Published online: March 19, 2023
Accepted:
March 18,
2023
Received in revised form:
March 12,
2023
Received:
February 7,
2023
Identification
Copyright
© 2023 Elsevier B.V. All rights reserved.
