Mini Review
Volume 14 Issue 6 - 2022
How to Diagnose Clinically with Certainty the Ehlers-Danlos Disease

Claude Hamonet1,2*, Stanislas Pommeret3, Sabine Pommeret4, Sacha Guilhaumou5, Régine Brissot2, Richard Amoretti6, Chantal-Marié Tanay7 and Arnaud Métlaine8

1Université Paris-Est-Créteil, France

2Centre de Santé EllaSanté, Paris, France

3Société Chimique de France, Paris

4Groupe d’Etude et de Recherche du Syndrome d’Ehlers-Danlos (GERSED), France

5Faculté de Pharmacie de Paris, France

6Centre Médical Integrative Systemic Medicine (ISM), Boulogne, France

7Bayeux, France

8Centre de Référence Maladies Rares du Sommeil et de la Vigilance, Hôpital Hôtel-Dieu, Paris, France

*Corresponding Author: Claude Hamonet, Professor, University Paris-East-Creteil, France.
Received: April 07, 2022; Published: May 28, 2022




Abstract

Ehlers-Danlos is a hereditary disease of the connective tissues responsible for numerous clinical manifestations due to their fragility and dysproprioception, the origin of which is the distortion of the signals that these tissues send to a nervous system that is spared by the pathological process. The frequency of this disease, which is transmitted to all the children of an affected person, is very underestimated and could concern 2% of the population worldwide.

We were able to identify 79 signs in total. We chose 9 signs among the 20 most frequent signs for their representativeness of tissue fragility or dysproprioception, namely joint pain, fatigue, clumsiness, joint instability, changes in the structure of the skin (thin, stretchable or fragile), joint hyperlaxity, gastroesophageal reflux disease, frequent bruising, hyperacusis. The presence of these 9 signs was sought in two control groups, a first one of 826 "normal" subjects assessed during a systematic occupational medicine consultation and a second one of 206 patients consulting a general practitioner or a specialist without preliminary diagnosis. It is observed that 98% of the 853 patients affected by the disease have at least 5 of these 9 signs but that 99.6% of the 826 normal subjects and 98.1% of the 206 consultant patients do not have them. Diagnosing Ehlers-Danlos disease is therefore possible with certainty by a clinical examination that highlights at least 5 of the 9 signs that we have described in this work.

Keywords: Ehlers-Danlos; Hereditary Disease; Hyperlaxity; Multiple Pain; Proprioception; Dystonia; Mental Hyperactivity; Working Memory; Parental Violence; Arterial Aneurysm; Spontaneous Fractures; Diabetes Insipidus

References

  1. Hamonet C. “La maladie oubliée par la médecine” (“The Disease forgotten by medicine”). l’Harmattan Paris 2019 (2020).
  2. Hamonet C., et al. “Ehlers-Danlos Syndrome (EDS) to Clinical Diagnosis. A Prospective Study of 853 Patients”. EC Neurology6 (2018).
  3. Cypel D. “Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome”. Orthopaedics and Traumatology: Surgery and Research2 (2019): 287-290.
  4. Hamonet C., et al. “Clinical diagnosis of Ehlers-Danlos syndrome. New fundamental perspectives”. International symposium on Ehlers-Danlos syndromes, Ghent, Belgium (2012).
  5. Hamonet C., et al. “Ehlers-Danlos et fausses accusations de maltraitance”. Gazette du Palais8 (2019): 19.
  6. Hamonet C., et al. “Bone fragility in infants with Ehlers-Danlos syndrome, From misdiagnosis to miscarriage of justice by false accusation of child abuse”. Symposium "Ehlers-Danlos. Cognitivity and Psychopathology", Hôpital de la Salpetrière, Paris (2018).
Citation: Claude Hamonet., et al. “How to Diagnose Clinically with Certainty the Ehlers-Danlos Disease”. EC Neurology 14.6 (2022): 28-32.

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