ACR Meeting Abstracts

ACR Meeting Abstracts

  • Home
  • Meetings Archive
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018 ACR/ARHP Annual Meeting
    • 2017 ACR/ARHP Annual Meeting
    • 2017 ACR/ARHP PRSYM
    • 2016-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • Register
    • View and print all favorites
    • Clear all your favorites
  • Meeting Resource Center

Abstract Number: 2156

Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome

Qingping Yao1 and Apostolos Kontzias 1, 1Stony Brook University, Stony Brook, NY

Meeting: 2019 ACR/ARP Annual Meeting

Keywords: Autoinflammatory Disease, Eye disease, genetics and Yao syndrome, NOD2

  • Tweet
  • Email
  • Print
Save to PDF
Session Information

Date: Tuesday, November 12, 2019

Session Title: Miscellanous Rheumatic & Inflammatory Disease Poster III: Autoimmune Conditions and Therapies

Session Type: Poster Session (Tuesday)

Session Time: 9:00AM-11:00AM

Background/Purpose: Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, has become increasingly recognized. The disease has been reported in America, Europe and Asia, and seems not uncommon.  This study aimed to report novel phenotypic and genotypic findings in the disease.

Methods: This is a retrospective review of electronic medical records (EMRs) of 11 patients with YAOS, and the study was approved by the Stony Brook University (SBU) Institutional Research Board.  These patients after an extensive workup without a unified diagnosis were referred to our Center of Autoinflammatory Disease at SBU, and followed up, and the charts were well documented by the lead author who has a vested interest in the disease. All these patients underwent genetic testing for periodic fever syndrome 6-gene panel (MEFV, TNFRSF1A, NLRP3, MVK, NLRP12 and NOD2) or targeted gene sequencing for NOD2. These patients were included in the study because they fulfilled the diagnostic criteria for YAOS and had either eyelid swelling as corroborated by i-phone photographs and/or NOD2 variants that were not identified previously for the disease. Continuous variables were expressed as median, interquartile range, and frequency for descriptive statistics.

Results: All YAOS patients (10 females, 1 male) were Caucasians with the mean age of 25.9 at disease onset. They shared such known common phenotype for YAOS as fever, rash, arthritis/arthralgia, gastrointestinal, and sicca-like symptoms (Table 1). Three patients had a family history of the similar symptoms.  Of note, 7 of the 11 patients developed unilateral or bilateral eyelid swelling with or without discoloration or eye redness (Figure 1). The symptom recurred and concurred with other clinical manifestations during disease flares and each episode lasted several hours to a few days with resolution. Six of the 7 patients carry the common NOD2 variants associated with YAOS. Of the 11 patients, 5 patients had clinical characteristics of YAOS and carry the rare NOD2 variants. These data support eyelid swelling as a new clinical feature of YAOS, and the spectrum of NOD2 variants associated with YAOS is extended.

Conclusion: This study indicates that the eyelid swelling and rare NOD2 variants are added clinical and genetic characteristics of YAOS. Recognition of the expanded disease spectrum will foster prompt diagnosis and management of the disease.


Table 1final

Table 1. Baseline Demographics, Clinical and Laboratory Characteristics of YAOS Patients

Eyelid swelling with discoloration and patchy erythema and plagues on the face and abdominal wall.


Disclosure: Q. Yao, None; A. Kontzias, Novartis, 5.

To cite this abstract in AMA style:

Yao Q, Kontzias A. Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome [abstract]. Arthritis Rheumatol. 2019; 71 (suppl 10). https://acrabstracts.org/abstract/expanding-the-phenotypic-and-genotypic-spectrum-in-yao-syndrome/. Accessed January 25, 2021.
  • Tweet
  • Email
  • Print
Save to PDF

« Back to 2019 ACR/ARP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/expanding-the-phenotypic-and-genotypic-spectrum-in-yao-syndrome/

Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

ACR Convergence: Where Rheumatology Meets. All Virtual. November 5-9.

ACR Pediatric Rheumatology Symposium 2020

© COPYRIGHT 2021 AMERICAN COLLEGE OF RHEUMATOLOGY

Wiley

  • Home
  • Meetings Archive
  • Advanced Search
  • Meeting Resource Center
  • Online Journal
  • Privacy Policy
  • Permissions Policies
loading Cancel
Post was not sent - check your email addresses!
Email check failed, please try again
Sorry, your blog cannot share posts by email.
This site uses cookies: Find out more.