Abstract
Dear Editors,
In recent decades, the diagnosis of Ehlers-Danlos syndrome (EDS) has been found to steadily increase, as well as the awareness of its head and neck manifestations. 1
This collagenopathy, accounted among rare disorders, can be stratified into 13 classes according to the 2017 diagnostic criteria, and can manifest at any age, with possible life-threatening complications, such as vascular dissection, uterine rupture, or gastrointestinal perforation.
Albeit long-standing recognition of the association between EDS and bleeding, we still lack a definitive understanding of the frequency, severity, and types of bleeding complications in the affected patients.
Often bruising, muscle hematomas, menorrhagia, bleeding from the oral cavity, and epistaxis are the presenting symptoms.
Epistaxis is well-known as being one of the major reasons to seek ENT consultation. 2 Even while it is rarely a direct cause of death, it can cause serious morbidity, especially in fragile patients.
Thus, when the nosebleeds recur, it is of primary importance to identify the underlying aetiology.
In most cases, epistaxis has an idiopathic origin; however, it can be a clinical manifestation secondary to well-recognized triggers or diseases, such as anticoagulant administration, postsurgical complications, vascular anomalies, genetic or acquired coagulopathies, and trauma.
EDS may represent a subtle underlying disease, related to altered collagen synthesis and/or processing, crucial for the integrity and stability of the vascular wall, rather than coagulation or platelet dysfunction. 3
Collagens are the major component of the extracellular matrix, providing the vascular wall scaffold. These proteins also facilitate platelet adhesion by collagen-platelet binding receptors, and aggregation and promote the coagulation cascade.
Despite the major impact of recurrent epistaxis in EDS patients and the subsequent deterioration of life quality, the literature on this topic consists of anecdotal reports. Even if the occurrence rate of nosebleeds is described as up to 24% in pediatric EDS, the occurrence of such complications in the various EDS subtypes is not well reported. 4
However, from the cases described in the literature, we learn the difficulty of controlling nose bleeds in these patients.5-7 Intermittent nasal packing is often necessary and can be complicated by septal perforation and crusting.
The management can include the use of self-nasal packing and, if the diagnosis of EDS is certain, the administration of desmopressin (1-deamino-8-D-arginine vasopressin), which acts as a hemostatic agent in collagen vascular disorders. The molecule promotes endothelial activation and improves the recruitment of platelets, thereby increasing platelet-endothelial interaction and, as the ultimate goal, controlling the bleeding.
In consideration of the rarity of EDS, any red flag symptom should be taken into account and the report of complicated cases should be encouraged to improve the knowledge and the comprehensive management of this disorder.
