Sindrome di ipermobilità

Che cos'è la sindrome di ipermobilità?

Hypermobility spectrum disorder was previously known as joint hypermobility syndrome or benign hypermobility syndrome. The terminology was updated in 2017 when scientific advances showed genetic causes for nearly all variations of Ehlers-Danlos syndrome with the exception of hypermobile EDS (hEDS).¹

New terminology now uses "hypermobility spectrum disorders" as the new descriptor for joint hypermobility.

Hypermobility spectrum disorder should be considered in patients who have joint hypermobility with the presence of secondary musculoskeletal manifestations (trauma, chronic pain, disturbed proprioception, and other manifestations) but who do not have hEDS.¹

Prevalenza

• Joint hypermobility is common and is found in up to 34% of children globally, being more common in girls and decreasing with age.²

• The prevalence has been found to be between 11 and 23% in adults aged between 18 and 24 years.³⁴

• Amongst professional dancers, the prevalence is significantly higher, being between 64.9 and 72%.⁵

• 8% of white people have joint hypermobility compared with 5% of Black people.⁶

• Approximately 3% of the general population are believed to have joint hypermobility.¹

Not everyone with hypermobile joints will have symptoms as a result. Patients with hypermobile joints are 40% more likely to describe pain than those without.¹

Sintomi della sindrome da ipermobilità¹

Le principali caratteristiche presentate sono ipermobilità articolare con dolori muscolari e articolari legati all'esercizio e un certo livello di affaticamento. Tuttavia, c'è una grande variabilità nella gravità dei sintomi. Comunemente, la storia clinica è caratterizzata da:

• Joint and muscle pains typically start in the early to mid-teenage years but can present at any age.

• The pain is usually described as a dull or moderate ache.

• The pain can be limited to activities or can be constant; weight-bearing joints can be more significantly affected than others.

• Joint pains can be worse after activity and can improve when the intensity of the activity is reduced.

• There may be morning stiffness though this rarely lasts for longer than 30 minutes.

Hypermobile spectrum disorder is associate with a growing list of extra-articular manifestations, including:

• Mood disturbances.⁷ The aetiology is unclear but it is common to see associated:

  • Emotional distress.

  • Ansia.

  • Attacchi di panico.

  • Depressione.

  • Somatoform disorders.

• Fatigue. The aetiology is uncertain but possibly linked to muscle weakness. 84% of people with hypermobility spectrum disorder report fatigue.⁸

• Functional gastrointestinal disorders - thought to be possibly due to abnormal connective tissue, ligamentous laxity, altered gut-brain neurology and visceral hypersensitivity.⁹ People with HDS are more likely to experience:

  • Nausea..

  • Early satiety.

  • Vomito.

  • Diarrea.

  • Costipazione.

  • Rumination.

  • Gonfiore.

  • Reflux and heartburn.

• Dysautonomia.¹⁰ Up to 75% of people with HDS experience:

  • Orthostatic intolerance and hypotension.

  • Secretomotor symptoms such as abnormal sweating or dry mouth.

  • PoTS.

  • Raynaud.

• Dolore alla cintura pelvica¹¹ including:

  • Dolore pelvico.

  • Dispareunia.

  • Long latent phases of labour with rapid progression.

  • Association with endometriosi, PCOS, and fibromi.

• There is an association between hypermobility syndrome and ADHD ¹²as well as other neurodevelopmental and also psychiatric conditions. ¹³

Diagnosi ¹¹⁴

Diagnosis is clinical, when joint hypermobility can be demonstrated (using the Beighton hypermobility score) along with the presence of secondary musculoskeletal manifestations. Hypermobile Ehlers-Danlos (hEDS) syndrome must be excluded. This ideally requires a rheumatology referral (although in the current climate most NHS rheumatologists decline these referrals); the International Classification of the Ehlers-Danlos Syndromes by Malfait et al gives the EDS diagnostic criteria.¹⁵

It remains important to recognise that joint hypermobility is common without associated symptoms and does not necessarily need any intervention.¹⁴

Punteggio di ipermobilità di Beighton¹⁶

Il punteggio di ipermobilità di Beighton è un sistema di valutazione su 9 punti per quantificare la lassità articolare e l'ipermobilità. Un punteggio più alto corrisponde a una maggiore lassità articolare. La soglia per la lassità articolare in un giovane adulto è tra 4 e 6, con punteggi superiori a 4 che si correlano bene con i livelli di dolore nei pazienti diagnosticati con sindrome da ipermobilità articolare benigna.

Beighton diagnostic criteria¹⁶

Questi criteri diagnostici accettati integrano il sistema di punteggio di Beighton, in combinazione con la presenza di sintomi persistenti.

La diagnosi della sindrome da ipermobilità articolare benigna richiede due criteri maggiori o uno maggiore e due minori, in assenza di diagnosi di sindromi di Ehlers-Danlos o Marfan. Due criteri minori sono considerati sufficienti per la diagnosi se vi è un parente di primo grado chiaramente affetto.

Criteri principali

• Punteggio di Beighton di 4 o superiore.

• Artralgia da oltre 3 mesi in quattro o più articolazioni.

Criteri minori

• Punteggio di Beighton da 1 a 3.

• Artralgia da oltre 3 mesi in una o tre articolazioni.

• Dolore alla schiena da oltre 3 mesi.

• Spondilosi/spondilolisi/spondilolistesi.

• lussazione/sublussazione di più di un'articolazione, o più volte nella stessa articolazione.

• Più di tre condizioni infiammatorie dei tessuti molli (ad esempio, tenosinovite, epicondilite).

• Abitudine marfanoide (alta, snella, rapporto tra apertura delle braccia e altezza >1,03, aracnodattilia, rapporto tra segmento superiore e inferiore <0,89).

• Smagliature cutanee, pelle sottile, pelle iperelastica, cicatrici papyracee.

• Pieghe delle palpebre cadenti, miopia o inclinazione antimongoloide.

• Vene varicose, ernia o prolasso uterino/rettale.

Diagnosi differenziale

Le principali diagnosi differenziali sono i disturbi ereditari del tessuto connettivo e le condizioni infiammatorie delle articolazioni:

• Sindrome di Ehlers-Danlos (tipo 3; ipermobilità): Ehlers-Danlos syndrome (EDS) is an umbrella term for a group of heritable soft connective tissue disorders characterised by generalised joint hypermobility, skin texture abnormalities, and visceral and vascular fragility or dysfunctions.¹⁷

• Sindrome di Marfan.

• Artrite idiopatica giovanile.

• Artrite reumatoide.

• Spondilite anchilosante.

• Fibromialgia.

Trattamento e gestione della sindrome da ipermobilità^{118 19}

There is recognition that access to specialists with knowledge of hypermobility spectrum disorders and to physiotherapists able to offer support and guidance is limited, leading to difficulties for patients and for GPs.¹²⁰

The focus for treatment should be on:

• Addressing the cause of the pain eg muscle imbalance.

• Reducing pain where possible.

• Maximising functional capacity and quality of life.

Treatment of autonomic dysfunction may improve pain and fatigue.

Lifestyle changes are potentially beneficial although there are limited studies. Weight loss, participation in exercise, and strengthening and stretching exercises to tighten muscles are likely to be beneficial.

CBT might be needed for patients who are fearful of exercise causing injury.

Pharmacological management is similar to that in other conditions causing chronic pain. Opioids should be avoided. Non-steroidal anti-inflammatories (both oral and topical), and SSRIs, SNRIs, or low-dose TCAs have been shown to have benefit. Baclofen or tizanidine may help with muscle spasticity. Tizanidine and TCAs may be harder for patients with orthostatic symptoms to tolerate. Patients with comorbid fibromyalgia may benefit from gabapentin or pregabalin.

La Dott.ssa Mary Lowth è un'autrice o l'autrice originale di questo opuscolo.