PRACA POGLĄDOWA
Trudności w diagnozowaniu i wybór optymalnych metod diagnostycznych hipermobilnego zespołu Ehlersa-Danlosa: przegląd piśmiennictwa
 
Więcej
Ukryj
1
Interdisciplinary Sports Medicine Group, Department of Sports Medicine, Medical University, Lublin, Poland
AUTOR DO KORESPONDENCJI
Magdalena Drabik   

Interdisciplinary Sports Medicine Group, Department of Sports Medicine, Medical University, Lublin, Poland
 
Med Og Nauk Zdr. 2020;26(2):79–86
SŁOWA KLUCZOWE
DZIEDZINY
STRESZCZENIE ARTYKUŁU
Wstęp i cel pracy:
Hipermobilny zespół Ehlersa-Danlosa (Ehlers-Danlos syndrome – hypermobile type, EDS-HT), którego podłoża genetycznego nie udało się ustalić, przy czym wykluczono mutacje białek fibrylarnych kolagenu, jest jednym z najczęściej występujących typów EDS. Jest to schorzenie cechujące się wieloma objawami o różnym nasileniu. Celem publikacji jest ustalenie najważniejszych czynników diagnostycznych EDS-HT na podstawie aktualnego piśmiennictwa.

Materiał i metody:
Przeszukanie baz publikacji Pubmed, Google Scholar oraz Science Direct, poprzez użycie kombinacji słów kluczy: hEDS diagnosis, hypermobile EDS, hypermobility.

Aktualny stan wiedzy:
Ostatecznie do przeglądu literatury włączono 19 prac, wśród których 8 dotyczy adekwatności wyniku Beightona w diagnostyce EDS-HT, a kolejne 11 jakości życia osób z EDS-HT oraz oceny i diagnostyki innych objawów towarzyszących temu schorzeniu.

Podsumowanie:
W celu diagnozy EDS-HT należy kierować się nie tylko ustalonym standardem, jakim jest wynik Beightona, ale także dodatkowymi testami, które potwierdziłyby decyzję diagnostyczną i zmniejszyły ryzyko błędu. Rozszerzenie badań diagnostycznych o dodatkowe kryteria, m.in. przedstawione w autorskim artykule, pozwoliłoby na zmniejszenie liczby fałszywych diagnoz oraz trafniejsze ich stawianie. Jest to bardzo ważne z perspektywy wdrożenia odpowiedniego leczenia i komfortu psychicznego pacjenta.


Introduction and objective:
Ehlers Danlos Syndrome – Hypermobile Type (EDS-HT), in which the genetic basis could not be determined and mutations of collagen fibrillar proteins were excluded, is one of the most common types of EDS. It is a disease characterized by many symptoms of varying severity. The purpose of the study is to determine the most important diagnostic factors for EDS-HT based on current literature.

Material and Methods:
Searching PubMed publication databases, Google Scholar and Science Direct, by using a combination of key words: hEDS diagnosis, hypermobile EDS, hypermobility.

Brief description of the state of knowledge:
19 papers were selected for the literature review, among which 8 concern the adequacy of the Beighton result in the diagnosis of EDS-HT, and another 11 the quality of life of people with EDS-HT, as well as the assessment and diagnosis of other symptoms accompanying this disease.

Conclusions:
In order to diagnose EDS-HT, one should be guided not only by the established standard, which is the Beighton score, but also by additional tests that would confirm the diagnostic decision and reduce the risk of error. Extension of diagnostic tests with additional criteria, which are presented in the article, would make diagnoses more accurate and reduce the possibility of false diagnoses. This is very important from the perspective of implementing appropriate treatment and the mental comfort of the patient.

 
REFERENCJE (47)
1.
Callewaert B, Loeys B, Paepe A. DeEhlers-Danlos syndromes and Marfan syndrome. 2008; 22, 165–89. https://doi.org/10.1016/j.berh....
 
2.
Halper J. Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology; 2014. p. 77–94. https://doi.org/10.1007/978-94....
 
3.
Parapia LA, Jackson C. Ehlers-Danlos syndrome – A historical review. British Journal of Haematology. 2008; 141: 32–5. https://doi.org/10.1111/j.1365....
 
4.
The Ehlers-Danlos Society. EDS types[Online]. Available at: https://www.ehlers-danlos.com/... (Accessed: 13 March 2020).
 
5.
Sobey G. Ehlers-Danlos syndrome: How to diagnose and when to perform genetic tests. Archives of Disease in Childhood. 2015; 100: 57–61. https://doi.org/10.1136/archdi....
 
6.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2017; 175: 8–26. https://doi.org/10.1002/ajmg.c....
 
7.
Forghani I. Updates in clinical and genetics aspects of hypermobile ehlers danlos syndrome. Balkan Medical Journal. 2019; 36: 12–6. https://doi.org/10.4274/balkan....
 
8.
Kjar BH, de Wandele I, Spanhove V, Juul-Kristensen B, Cools AM. Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound. Journal of Shoulder and Elbow Surgery, Elsevier Inc. 2019; 1–9. https://doi.org/10.1016/j.jse.....
 
9.
Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-danlos syndromes: Revised nosology, Villefranche, 1997. American Journal of Medical Genetics. 1998; 77: 31–7. https://doi.org/10.1002/(SICI)...<31:AID-AJMG8>3.0.CO;2-O.
 
10.
Byers PH, Murray ML. Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome. The Journal of Investigative Dermatology, Elsevier Masson SAS. 2012; 132, E6–11. https://doi.org/10.1038/skinbi....
 
11.
Kumar B, Lenert P. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. American Journal of Medicine, Elsevier Inc. 2017; 130: 640–7. https://doi.org/10.1016/j.amjm....
 
12.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. The Ehlers–Danlos syndromes, rare types. Am J Med Genet. Part C Semin. Med Genet. 2017; 175(1), 70–115. https://doi.org/10.1002/ajmg.c....
 
13.
Tinkle BT, Levy HP. Symptomatic Joint Hypermobility. Medical Clinics of North America, Elsevier Inc. 2019; 103, 1021–33. https://doi.org/10.1016/j.mcna....
 
14.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 International Classi fi cation of the Ehlers – Danlos Syndromes. 2017; 26: 8–26. https://doi.org/10.1002/ajmg.c....
 
15.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2015; 169, 6–22. https://doi.org/10.1002/ajmg.c....
 
16.
Kaufman CS, Butler MG. Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet. 2016; 6(2): 17–21. https://doi:10.5496/wjmg.v6.i2....
 
17.
Williams AN. Ehlers-Danlos syndromes: new labels confuse everyone. BMJ (Clinical Research Ed). 2019; 367: l6095. https://doi.org/10.1136/bmj.l6....
 
18.
Reference GH. Ehlers-Danlos syndrome [Online]. Available at: https://ghr.nlm.nih.gov/condit... (Accessed: 13 March 2020).
 
19.
Borumandi F. Dislocated jaw is common in patients with Ehlers-Danlos syndromes. BMJ (Clinical Research Ed). 2019; 367, l6056. https://doi.org/10.1136/bmj.l6....
 
20.
Petersen JW, Douglas JY. Tenascin-X, collagen, Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events. Medical hypotheses. 2013; 81(3), 443–447. https://doi.org/10.1016/j.mehy....
 
21.
Tee MK, Thomson AA, Bristow J, Miller WL. Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X. Genomics. 1995; p. 171–8. https://doi.org/10.1006/geno.1....
 
22.
Zweers MC, Schalkwijk J, Van Kuppevelt TH, Van Vlijmen-Willems IM, Bergers M, Lethias C, et al. Transplantation of reconstructed human skin on nude mice: A model system to study expression of human tenascin-X and elastic fiber components. Cell and Tissue Research. 2005; 319: 279–87. https://doi.org/10.1007/s00441....
 
23.
Lawrence EJ. The clinical presentation of Ehlers-Danlos syndrome. Advances in Neonatal Care. 2005; 5: 301–14. https://doi.org/10.1016/j.adnc....
 
24.
Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). The Journal of Rheumatology. 2000; 27: 1777–9.
 
25.
Beighton PH, Grahame R, Bird HA. Assessment of Hypermobility. In Hypermobility of Joints, 4th ed, London, Springer-Verlag London 2012. p. 11–27.
 
26.
Skwiot M, Śliwiński G, Milanese S, Śliwiński Z. Hypermobility of joints in dancers. PLoS ONE. 2019; 14: 1–13. https://doi.org/10.1371/journa....
 
27.
Schlager A, Ahlqvist K, Rasmussen-Barr E, Bjelland EK, Pingel R, Olsson C, et al. Inter- and intra-rater reliability for measurement of range of motion in joints included in three hypermobility assessment methods. BMC Musculoskeletal Disorders, BMC Musculoskeletal Disorders. 2018; 19, 1–10. https://doi.org/10.1186/s12891....
 
28.
Birch S, Liljensoe A, Hartig-Andreasen C, Soballe K, Mechlenburg I. No correlations between radiological angles and self-assessed quality of life in patients with hip dysplasia at 2–13 years of follow-up after periacetabular osteotomy. Acta Radiologica, 2014; 56: 196–203. https://doi.org/10.1177/028418....
 
29.
De Wandele I, Rombaut L, Leybaert, L, Van de Borne P, De Backer T, Malfait F, et al. Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome. Seminars in Arthritis and Rheumatism. Elsevier. 2014; 44, 93–100. https://doi.org/10.1016/j.sema....
 
30.
Celletti C, Camerota F, Castori M, Censi F, Gioffre L, Calcagnini G, et al. Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? BioMed Research International 2017. 2017: 9161865. https://doi.org/10.1155/2017/9....
 
31.
Cypel D. Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome. Orthopaedics and Traumatology: Surgery and Research, Elsevier Masson SAS. 2019; 105: 287–90. https://doi.org/10.1016/j.otsr....
 
32.
Menys A, Keszthelyi D, Fitzke H, Fikree A, Atkinson D, Aziz Q, et al. A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study. Neurogastroenterology and Motility. 2017; 29: 1–9. https://doi.org/10.1111/nmo.13....
 
33.
Gaisl T, Giunta C, Bratton DJ, Sutherland K, Schlatzer C, Sievi N, et al. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: A parallel cohort study. Thorax. 2017; 72: 729–35. https://doi.org/10.1136/thorax....
 
34.
Whitehead NA, Mohammed KD, Fulcher ML. Does the Beighton Score Correlate With Specific Measures of Shoulder Joint Laxity? Orthopaedic Journal of Sports Medicine. 2018; 6: 1–7. https://doi.org/10.1177/232596....
 
35.
Nicholson LL, Chan C. The Upper Limb Hypermobility Assessment Tool: A novel validated measure of adult joint mobility. Musculoskeletal Science and Practice, Elsevier Ltd. 2018; 35: 38–45. https://doi.org/10.1016/j.msks....
 
36.
Paul Johnson A, Ward S, Simmonds J. The Lower Limb Assessment Score: A valid measure of hypermobility in elite football? Physical Therapy in Sport. Elsevier Ltd. 2019; 37: 86–90. https://doi.org/10.1016/j.ptsp....
 
37.
Nourissat G, Vigan M, Hamonet C, Doursounian L, Deranlot J. Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation. Journal of Shoulder and Elbow Surgery. Elsevier Inc. 2018; 27: 65–9. https://doi.org/10.1016/j.jse.....
 
38.
Romeo DM, Lucibello S, Musto E, Brogna C, Ferrantini G, Velli C, et al. Assessing Joint Hypermobility in Preschool-Aged Children. Journal of Pediatrics. Elsevier Inc. 2016; 176: 162–6. https://doi.org/10.1016/j.jped....
 
39.
Palmer S, Manns S, Cramp F, Lewis R, Clark EM. Test-retest reliability and smallest detectable change of the Bristol Impact of Hypermobility (BIoH) questionnaire. Musculoskeletal Science and Practice, Elsevier Ltd. 2017; 32, 64–9. https://doi.org/10.1016/j.msks....
 
40.
Manns S, Cramp F, Lewis R, Clark EM, Palmer S. A qualitative evaluation of the appropriateness, validity, acceptability, feasibility and interpretability of the Bristol Impact of Hypermobility (BIoH) questionnaire. Musculoskeletal Science and Practice. Elsevier. 2018; 38: 69–76. https://doi.org/10.1016/j.msks....
 
41.
Armstrong R, Greig DM. The Beighton score as a predictor of Brighton criteria in sport and dance. Physical Therapy in Sport, Elsevier Ltd. 2018; 32: 145–54. https://doi.org/10.1016/j.ptsp....
 
42.
Bevilacqua Junior DE, Maillard S, Ferrari J. Measuring joint hypermobility using the hospital del mar criteria—a reliability analysis using secondary data analysis. Physiotherapy. 2015; 101: 146. https://doi.org/10.1016/j.phys....
 
43.
Berglund B, Pettersson C, Pigg M, Kristiansson P. Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): A questionnaire study. BMC Musculoskeletal Disorders. 2015; 16: 7–11. https://doi.org/10.1186/s12891....
 
44.
De Wandele I, Calders P, Peersman W, Rimbaut S, De Backer T, Malfait F, et al. Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls. Seminars in Arthritis and Rheumatism. Elsevier. 2014; 44: 353–61. https://doi.org/10.1016/j.sema....
 
45.
Kovacic K, Chelimsky TC, Sood MR, Simpson P, Nugen M, Chelimsky G. Joint hypermobility: A common association with complex functional gastrointestinal disorders. Journal of Pediatrics. Elsevier Inc. 2014; 165, 973–8. https://doi.org/10.1016/j.jped....
 
46.
Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome. Seminars in Arthritis and Rheumatism, Elsevier Inc. 2010; 40: 267–74. https://doi.org/10.1016/j.sema....
 
47.
The Ehlers-Danlos Society. EDS Diagnostics 2017 [Online]. Available at: https://www.ehlers-danlos.com/... (Accessed: 13 March 2020).
 
eISSN:2084-4905
ISSN:2083-4543