Azrad-Daniel S, Cupa-Galvan C, Farca-Soffer S, Perez-Zincer F, Lopez-Acosta ME. Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges. World J Clin Cases 2022; 10(33): 12247-12256 [PMID: 36483799 DOI: 10.12998/wjcc.v10.i33.12247]
Corresponding Author of This Article
Shely Azrad-Daniel, MD, Doctor, Lecturer, Research Scientist, Department of Internal Medicine, Hospital Angeles Lomas, Vialidad de la baranca 240, Huixquilucan 52763, Mexico. shelyazrad@hotmail.com
Research Domain of This Article
Medicine, General & Internal
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Nov 26, 2022; 10(33): 12247-12256 Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12247
Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges
Shely Azrad-Daniel, Corina Cupa-Galvan, Sion Farca-Soffer, Fernando Perez-Zincer, Maria Elena Lopez-Acosta
Shely Azrad-Daniel, Sion Farca-Soffer, Department of Internal Medicine, Hospital Angeles Lomas, Huixquilucan 52763, Mexico
Corina Cupa-Galvan, Department of Radiology, Hospital Angeles Lomas, Mexico 52763, Mexico
Fernando Perez-Zincer, Department of Hematology, Hospital Angeles Lomas, Mexico 52763, Mexico
Maria Elena Lopez-Acosta, Department of Gastroenterology-Endoscopy, Hospital Angeles Lomas, Mexico 52763, Mexico
Author contributions: Every author provided important information and worked for the elaboration of this case report in the following ways: Azrad-Daniel S performed the writing, bibliographic review, grammatical changes, translation and analysis of the case and gathered each author’s participation; Cupa-Galvan C carried out the patient´s embolectomy, analyzed and provided radiology images and helped in the bibliographic review; Farca-Soffer S and Perez-Zincer F collaborated in diagnosis, treatment and patient follow-up; Lopez-Acosta ME performed the colonoscopy, carried out biopsies, provided images and participated in the bibliographic review.
Informed consent statement: Informed written consent was obtained from the patient.
Conflict-of-interest statement: All authors report no relevant conflict of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shely Azrad-Daniel, MD, Doctor, Lecturer, Research Scientist, Department of Internal Medicine, Hospital Angeles Lomas, Vialidad de la baranca 240, Huixquilucan 52763, Mexico. shelyazrad@hotmail.com
Received: April 13, 2022 Peer-review started: April 13, 2022 First decision: June 16, 2022 Revised: June 21, 2022 Accepted: October 26, 2022 Article in press: October 26, 2022 Published online: November 26, 2022 Processing time: 223 Days and 11 Hours
Abstract
BACKGROUND
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations. It was recently described in 2005, and today at least six different subtypes have been identified. Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities, with specific arterial tortuosity at any site. The differential diagnosis of LDS includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome, Shprintzen-Goldberg craniosynostosis, and familial aortic aneurysm and dissection syndrome.
CASE SUMMARY
We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein.
CONCLUSION
This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies, underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients. Differential diagnosis, clinical presentation and treatment options for this syndrome are discussed in this article.
Core Tip: Diagnosing and treating Loeys-Dietz syndrome within its many comorbidities is very challenging for most clinicians. Suspected Loeys-Dietz syndrome in a patient without aortic aneurysm should not be discarded. We describe a case to enhance the clinical suspicion of this genetic disease for proper management within a variety of medical specialties. The management and follow-up depend upon each patient and their manifestations.
