Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

Caliogna, Laura; Guerrieri, Viviana; Annunziata, Salvatore; Bina, Valentina; Brancato, Alice Maria; Castelli, Alberto; Jannelli, Eugenio; Ivone, Alessandro; Grassi, Federico Alberto; Mosconi, Mario; Pasta, Gianluigi

doi:10.3390/ijms221810149

Cited by 14 publications

(15 citation statements)

References 93 publications

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“…Studies suggest that people with hypermobile EDS or joint hypermobility syndrome may exhibit increased windup to repeated stimuli and decreased exercise-induced analgesia, which supports the presence of central sensitization in these individuals. Fibromyalgia, a widespread musculoskeletal pain syndrome often associated with central sensitization, occurs in 42% of adults with EDS [ 11 , 12 ]. Although opiates are effective in relieving moderate to severe pain, caution should be exercised when prescribing them to patients with EDS due to the condition's connective tissue vulnerabilities, as well as the risk of side effects and complications.…”

Section: Discussionmentioning

confidence: 99%

The Analgesic Mismanagement of a Patient With Ehlers-Danlos Syndrome (Hypermobility Variant): A Case Report

Gunendran,

Uma Dwarakanath

2023

Cureus

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Ehlers-Danlos syndrome (EDS) is a rare disorder affecting the connective tissue, resulting in joint hypermobility, elastic skin, and often chronic pain, especially in the hypermobility variant. Although opioids are commonly prescribed for pain, they can lead to opioid use disorder (OUD) and overdose. A 67-year-old female with Ehlers-Danlos syndrome hypermobility type (EDS-HT), osteoarthritis (OA), and anxiety received opioid-based pain management for a decade before changing her primary care physician. Her medications included oxycodone and morphine sulfate extended-release (ER) at different dosages. To lower overdose risk, her morphine milligram equivalents (MME) were tracked, and a step-by-step opioid tapering process was started. Diagnosing EDS is difficult due to symptom overlap with other connective tissue disorders. Chronic pain in EDS involves both nociceptive and neuropathic pain, necessitating a comprehensive pain management approach. The essential components of pain management include non-opioid medications, physical therapy, and psychological support. Opioids should be used cautiously in EDS patients because of connective tissue vulnerabilities and potential side effects. Personalized plans for opioid tapering may be appropriate for those on long-term opioid therapy. Managing EDS-related chronic pain requires a tailored, multidisciplinary approach. Early and accurate diagnosis and specialized healthcare providers familiar with EDS are crucial for effective pain management. Ongoing research and evidence-based pain management approaches are vital to address the unique needs of EDS patients, promoting better pain relief and overall well-being. Through meticulous evaluation and personalized treatment plans, healthcare professionals can better support EDS patients in managing chronic pain and reducing opioid dependence and misuse risks. A comprehensive approach, incorporating non-opioid medications, physical therapy, and psychological support, can offer effective pain relief and improve the quality of life for those living with EDS.

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Section: Discussionmentioning

confidence: 99%

The Analgesic Mismanagement of a Patient With Ehlers-Danlos Syndrome (Hypermobility Variant): A Case Report

Gunendran,

Uma Dwarakanath

2023

Cureus

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“…Синдром Елерса-Данлоса Синдром Елерса-Данлоса (EDS) група спадкових розладів сполучної тканини, що проявляється гіперрозтяжністю шкіри, гіпермобільністю суглобів і крихкістю тканин [6]. У 2017 р. запропоновано нову класифікацію EDS, у якій запропоновано 13 варіантів синдрому (табл.…”

Section: Reviewsunclassified

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

Selska,

Vasylkova

2024

UJPP

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To date, the prevalence of congenital heart defects (CHD), the level of disability and mortality from them in children remains an unsolved problem in pediatrics, despite the improvement of preventive measures, diagnostics and treatment in pediatric cardiology. There are a number of genetic diseases that are manifested by congenital anomalies of the cardiovascular system. Purpose - to analyze the abnormalities of the cardiovascular system in children with gene defects for the early diagnosis of genetic diseases in patients and the detection of congenital pathology of the heart and blood vessels in them, followed by their treatment tactics. This article describes a number of genetic syndromes in children, in which congenital anomalies of the heart and blood vessels are the most common. The characteristics of each of the syndromes include its definition, clinical symptoms with an emphasis on the external signs of the patient, the study of abnormalities of the cardiovascular system in this genetic disease, the examination plan for the patient and genetic testing used for the accuracy of the diagnosis. Conclusions. Based on the results of our analysis, we can conclude that there is a certain regularity between genetic diseases in children and the development of CHD in them, according to which certain CHD are formed with certain gene defects. Knowledge of the main clinical symptoms, especially external dysmorphism, in such patients helps in faster diagnosis and treatment of a genetic disease, in particular CHD. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

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“…Each subtype has typical symptoms, although individual symptoms and severity depend on each specific patient. The classic type (type I and II) presents with severe hyperextensibility and fragility of the skin, delayed wound healing, easy bruising, and generalized hypermobility of the joints, while the type of hypermobility (Type III) presents with generalized joint hypermobility, recurrent dislocations, and chronic musculoskeletal pain, but less severe skin fragility [22][23][24][25].…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

Pathological Background and Clinical Procedures in Oral Surgery Haemostasis Disorders: A Narrative Review

et al. 2023

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Haemostasis disorders are serious pathologies that could put dental and surgical procedures at risk as they are associated with postoperative bleeding, which in some circumstances could be prolonged and dangerous for the patient. In-depth knowledge of the problems associated with coagulation pathologies and the suitable specific procedures should be implemented in dental practice. A good awareness of the clinical protocols to be used in these circumstances may help reduce operator stress and increase patient compliance. Collaboration with the haematologist is always recommended to establish an adequate treatment plan, both regarding the administration of therapies that promote haemostasis and for assessing the operative risk. Hereby, we summarize the congenital and hereditary pathologies that lead to haemostasis disorders, which can be found in patients undergoing dental procedures. The purpose of this narrative review is to frame the diseases from a clinical, anamnestic, and etiopathological standpoint, as well as to evaluate an operative approach to the pathology under consideration, with particular attention to anaesthesia manoeuvres and post-surgical haemostasis, to avoid hematoma formation and uncontrolled bleeding which can lead procedure failure up and even death. Of note, it is likewise important to educate the patient about prevention, to keep the oral cavity healthy and avoid invasive procedures, limiting the number of operative sessions.

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Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

Cited by 14 publications

References 93 publications

The Analgesic Mismanagement of a Patient With Ehlers-Danlos Syndrome (Hypermobility Variant): A Case Report

The Analgesic Mismanagement of a Patient With Ehlers-Danlos Syndrome (Hypermobility Variant): A Case Report

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

Pathological Background and Clinical Procedures in Oral Surgery Haemostasis Disorders: A Narrative Review

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