Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome

Background: Ehlers-Danlos Syndromes (EDS) comprise a group of heterogeneous hereditary connective tissue disorders [1, 2]. Psychiatric disorders such as depression, anxiety, panic disorder, agoraphobia, schizophrenia, neurodevelopmental disorders, personality disorder, eating disorders, substance misuse and interpersonal issues have been reported in the literature to be associated with EDS [1-3]. Objectives: The case of a 15-year -old male who was hospitalized after a suicide attempt by gunshot was discovered to have symptoms suggestive of EDS is presented in this paper along with the results of a literature search of psychiatric manifestations of EDS in children and adolescents. Methods: Literature review was conducted on the UpToDate website on March 11, 2020 to review symptoms of EhlersDanlos Syndrome for the purpose of preliminary diagnosis of this patient. Additional literature search was conducted on PubMed on 4/2/20 at 12:10 P.M. and on 4/9/20 at 10:51 P.M. and on the search engine Google on 4/2/20 at 12:25 P.M. On May 11, 2020 at 2 P.M., another web search was conducted with review of 6 different websites pertaining to EhlersDanlos Syndrome. Results: A systematic review of psychiatric manifestations of Ehlers-Danlos Syndromes revealed a strong incidence of psychiatric symptoms. Conclusion: Our patient’s psychiatric symptoms of depression, suicidal ideations, anxiety and social and educational struggles may have been at least partially due to chronic pain- abdominal, headache and musculoskeletal, and social ostracization associated with Ehlers-Danlos Syndrome. Education regarding this illness helped our patient’s recovery as he came to understand why he was so “odd” and the cause of his multisystemic chronic pain.

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SAT0515 COMPLEX HYPERMOBILITY EHLERS-DANLOS SYNDROME (HEDS): MAPPING THE PATIENT’S JOURNEY OVER 40 MONTHS IN A TERTIARY REFERRAL CENTRE

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.4589 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1213.1-1214

Author(s):

S. Dar ◽

V. Tidman ◽

P. Mehta ◽

H. Kazkaz

Keyword(s):

Pain Management ◽

Young Patients ◽

Severe Disabilities ◽

Medical Genetics ◽

Team Approach ◽

College Hospital ◽

Ehlers Danlos Syndrome ◽

Qualitative Interview Study ◽

Danlos Syndrome

Background:Ehlers-Danlos Syndromes are heritable connective tissue disorders.They are multisystemic and patients can present with several symptoms such as joint pain and instability, visceral and autonomic dysfunction, as well as significant psychosocial sequela. Managing this cohort of young patients is usually challenging as many patients present late due to delayed diagnosis, often with several complications, problems with mobility and opioid use. Furthermore, there is often a prolonged lack of coordinated healthcare and access to social care services. A recent parliamentary debate in the U.K. highlighted that hEDS services are excluded from specialist Rheumatology commissioning services. In order to ascertain the relevance and utility of specialist services in this population, we conducted this study.Objectives:The objective of this study was to map the patient experience following a referral to the specialist clinic in order to assess the need for an integrated, multidisciplinary approach to treating patients with hypermobility EDS.Methods:We retrospectively reviewed the records of 50 patients with the diagnosis of hypermobility EDS who were seen in a specialist hypermobility clinic at University College Hospital UCLH between January 2016 and March 2016. Relevant data was collected regarding their medical care in our hospital up to October 2019.Results:The median age was 37 (range 21-59). We had 10 males and 40 females. The diagnosis of hypermobility EDS was based on the 1997 criteria as these patients were seen prior to the 2017 classification. Overall, the study yielded 6 key themes: 1. All patients experienced chronic pain, with 36% reporting use of opioids for pain management. 2. Patients were referred to multiple medical specialities within the same hospital trust, (22% patients were referred to ≥5 specialities). 3. Patients required a high number of follow up appointments (28% of patients required ≥20 follow-up visits). 4. Failed discharges were common; patients were often referred back to the Rheumatology Clinic despite being discharged to primary care. 5. Patients had a significant number of comorbidities, reflected by polypharmacy. (36% of patients were prescribed ≥5 medications). 6. Disability was high (20% of patients reported severe mobility problems).Conclusion:This study shows that patients with hEDS referred to UCLH have significant levels of disability, opioids use and polypharmacy especially for a relatively young population of patients. They need a complex interdisciplinary approach in a timely manner. In order to minimise delays and allow earlier diagnosis and intervention, we have recently adopted a multidisciplinary team approach, including pain specialists, rheumatologists, psychologists, physiotherapists, nurse specialists, urogynaecologists and neurogastroenterologists. This allows more coordinated and efficient care and incorporates an EDS-specific pain management programme. Specialised services for complex hEDS cases should be established and adequately resourced. Moreover, it would be cost effective to commission a patient-centred “one-stop-shop” service, where patients, who often travel from long distances with severe disabilities, can be seen by multiple specialities in a single visit.References:[1]Bennett, S., Walsh, N., Moss, T. and Palmer, S. (2019). Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers–Danlos syndrome hypermobility type: a qualitative interview study. Disability and Rehabilitation, pp.1-10. Healthwatch Calderdale. (2019). Hypermobility Syndromes Project - Healthwatch Calderdale.[2]Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H. and Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), pp.48-69.Disclosure of Interests:None declared

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Ehlers-Danlos syndrome related toFKBP14mutations: detailed cutaneous phenotype

Clinical and Experimental Dermatology ◽

10.1111/ced.12983 ◽

2016 ◽

Vol 42 (1) ◽

pp. 64-67 ◽

Cited By ~ 3

Author(s):

A. C. Bursztejn ◽

M. Baumann ◽

D. Lipsker

Keyword(s):

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)94192-x ◽

1989 ◽

Vol 264 (3) ◽

pp. 1349-1352

Author(s):

G Tromp ◽

H Kuivaniemi ◽

H Shikata ◽

D J Prockop

Keyword(s):

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)67778-1 ◽

1991 ◽

Vol 266 (8) ◽

pp. 5244-5248

Author(s):

H Vissing ◽

M D'Alessio ◽

B Lee ◽

F Ramirez ◽

P H Byers ◽

...

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iv ◽

Danlos Syndrome ◽

Procollagen Iii

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