Zespół hipermobilności stawów
Epidemiologia

Zespół hipermobilności stawów (JHS) to zaburzenie tkanki łącznej charakteryzujące się nadmierną ruchomością stawów, przewlekłym bólem i innymi manifestacjami klinicznymi. Epidemiologia JHS jest zróżnicowana, z rozpowszechnieniem w populacji ogólnej szacowanym na 3-19,5%, a uogólniona hipermobilność stawów (GJH) występuje u 10-25% populacji, częściej u kobiet i osób młodszych. Diagnostyka opiera się na kryteriach Brighton i skali Beightona (wynik ≥4 punktów wskazuje na uogólnioną hipermobilność), jednak narzędzia te mają ograniczenia, zwłaszcza u dzieci i młodzieży. W 2017 roku wprowadzono nowe klasyfikacje, zastępując JHS hipermobilnym zespołem Ehlersa-Danlosa (hEDS) oraz zaburzeniami spektrum hipermobilności (HSD), co ma na celu lepsze rozróżnienie fenotypów i poprawę nadzoru epidemiologicznego. Zespół wykazuje autosomalny dominujący wzór dziedziczenia z niepełną penetracją, a patogeneza hEDS wiąże się z mutacjami w genach kodujących kolagen i białka związane z jego przetwarzaniem (np. COL1A1, COL3A1, TNXB).

Epidemiologia Zespołu hipermobilności stawów

Zespół hipermobilności stawów (JHS – Joint Hypermobility Syndrome) stanowi zaburzenie tkanki łącznej charakteryzujące się nadmierną ruchomością stawów wraz z towarzyszącymi objawami bólowymi oraz innymi manifestacjami klinicznymi. Dokładna częstość występowania tego zaburzenia jest przedmiotem dyskusji w środowisku naukowym, a dane epidemiologiczne wykazują znaczne różnice w zależności od badanej populacji, przyjętych kryteriów diagnostycznych i metodologii badania.1

Rozpowszechnienie Zespołu hipermobilności stawów

Według różnych źródeł, częstość występowania zespołu hipermobilności stawów waha się od 0,75% do 2% populacji ogólnej, przy czym kobiety są znacznie częściej dotknięte tym zaburzeniem niż mężczyźni.1 Inne badania wskazują, że rozpowszechnienie JHS może wynosić od 3% do 19,5%, co odzwierciedla trudności w określeniu rzeczywistej częstości występowania tego zaburzenia ze względu na różnorodność objawów klinicznych, brak jednoznacznego testu potwierdzającego oraz nieprawidłowe diagnozowanie tego zespołu bez spełnienia pełnych kryteriów Brighton.1

Warto zauważyć, że występowanie zespołu hipermobilności stawów jest wyższe u dzieci i zmniejsza się z wiekiem. Badania wskazują, że tzw. łagodny zespół hipermobilności stawów (BJHS – Benign Joint Hypermobility Syndrome) dotyka od 2% do 30% dzieci w wieku przedszkolnym, w zależności od pochodzenia etnicznego, z wyższą częstością występowania w populacjach azjatyckich i afrykańskich.1

W badaniu przeprowadzonym w Wielkiej Brytanii wykazano, że zdiagnozowana częstość występowania zespołu hipermobilności stawów (wówczas określanego jako Joint Hypermobility Syndrome – JHS) oraz zespołu Ehlersa-Danlosa (EDS) wynosiła łącznie 194,2 na 100 000 osób w latach 2016/2017, co odpowiada około 10 przypadkom w praktyce lekarskiej obejmującej 5000 pacjentów.1

Uogólniona hipermobilność stawów

Uogólniona hipermobilność stawów (GJH – Generalized Joint Hypermobility), będąca kryterium diagnostycznym dla zespołu hipermobilności stawów, występuje częściej niż sam zespół, ponieważ osoby z GJH mogą być bezobjawowe. W badaniach populacji studentów, wykorzystując kryteria z 2017 roku, stwierdzono, że 4% do 11% dzieci w wieku od 3 do 19 lat wykazywało uogólnioną hipermobilność stawów.1

Rozpowszechnienie GJH w populacji ogólnej szacuje się na 10% do 25%.1 Badania wskazują, że hipermobilność, która nie jest związana z chorobą ogólnoustrojową, występuje u 4% do 13% populacji ogólnej.12

W badaniu przeprowadzonym wśród młodzieży w wieku 13,8 lat w Wielkiej Brytanii, częstość występowania hipermobilności (zdefiniowanej jako wynik w skali Beightona ≥4) wynosiła 27,5% u dziewcząt i 10,6% u chłopców, co sugeruje, że wartość progowa 4 punktów w skali Beightona może być zbyt niska lub że ta skala nie jest odpowiednia do stosowania u osób, których układ mięśniowo-szkieletowy jest jeszcze w trakcie rozwoju.1

Różnice demograficzne w zespole hipermobilności stawów

Zespół hipermobilności stawów wykazuje wyraźne różnice w występowaniu w zależności od płci, wieku i pochodzenia etnicznego.1 Hipermobilność jest częstsza u kobiet niż u mężczyzn.1 Proponowane wyjaśnienia tych różnic związanych z płcią obejmują, ale nie ograniczają się do, różnic hormonalnych, anatomicznych i nerwowo-mięśniowych.2

Mobilność stawów zmniejsza się wraz z wiekiem, co znajduje odzwierciedlenie w niższym rozpowszechnieniu zespołu hipermobilności stawów wśród osób starszych.1 Istnieją także wyraźne różnice rasowe w mobilności stawów wśród normalnych populacji. Osoby pochodzenia azjatyckiego, bliskowschodniego i afrykańskiego wykazują zwiększoną wiotkość stawów w porównaniu z Europejczykami i Amerykanami.2

W badaniu przeprowadzonym wśród rekrutów irańskiej armii wykazano, że hipermobilność stawów była obecna u 29,4% badanych, co jest stosunkowo wysokim wynikiem w porównaniu z danymi z innych populacji.3

Nadzór i monitorowanie Zespołu hipermobilności stawów

Ze względu na złożoność i różnorodność objawów zespołu hipermobilności stawów, nadzór i monitorowanie tego zaburzenia stanowi istotne wyzwanie dla systemów opieki zdrowotnej. Systematyczne gromadzenie danych epidemiologicznych jest kluczowe dla lepszego zrozumienia naturalnego przebiegu choroby oraz opracowania skutecznych strategii diagnostycznych i terapeutycznych.1

Wyzwania diagnostyczne

Jednym z głównych wyzwań w nadzorze nad zespołem hipermobilności stawów jest jego prawidłowa diagnoza. Badania wskazują, że mniej niż 10% przypadków jest rozpoznawanych w podstawowej opiece zdrowotnej.1 Trudności diagnostyczne wynikają z heterogeniczności objawów, nakładania się z innymi schorzeniami oraz braku swoistych biomarkerów.2

W procesie diagnostycznym konieczne jest wykluczenie obecności innych zaburzeń tkanki łącznej, które częściowo pokrywają się z JHS, w tym zespołu Marfana i zespołu Ehlersa-Danlosa.1 Dokładna ocena kliniczna, wraz z zastosowaniem kryteriów Brighton, może pomóc w postawieniu trafnej diagnozy.2

Skala Beightona, będąca 9-punktowym systemem oceny, jest powszechnie stosowanym narzędziem do oceny uogólnionej hipermobilności stawów (GJH). Jednakże, pierwotnie została ona opracowana jako narzędzie epidemiologiczne do badań przesiewowych dużych populacji pod kątem GJH, a później przyjęta jako narzędzie kliniczne do celów diagnostycznych.1 Kontynuowanie stosowania skali Beightona jako klinicznego narzędzia diagnostycznego, szczególnie w ramach Międzynarodowej Klasyfikacji EDS z 2017 roku do diagnozowania hipermobilnego EDS (hEDS), pozostaje kontrowersyjne, ponieważ pierwotnie było ono przeznaczone jako narzędzie przesiewowe.1

Ramy diagnostyczne i klasyfikacyjne

W 2017 roku nastąpiła znacząca rewizja kryteriów diagnostycznych dla zespołu hipermobilności stawów i zespołu Ehlersa-Danlosa. Termin „zespół hipermobilności stawów” (JHS) został zastąpiony nowymi kategoriami diagnostycznymi: hipermobilnym zespołem Ehlersa-Danlosa (hEDS) oraz zaburzeniami spektrum hipermobilności (HSD – Hypermobility Spectrum Disorders).11

Zgodnie z obecnymi kryteriami, zespół hipermobilności stawów diagnozuje się, gdy występuje hipermobilność w 4 lub więcej stawach wraz z innymi objawami i cechami wymienionymi w kryteriach Brighton.1 Według kryteriów Brighton, wynik 4 lub wyższy w skali Beightona wskazuje na uogólnioną wiotkość stawów, a to wraz z bólami stawów w 4 lub więcej stawach przez okres dłuższy niż trzy miesiące oznacza zespół hipermobilności stawów.1

Nowe ramy diagnostyczne mają na celu lepsze rozróżnienie między różnymi postaciami hipermobilności oraz związanymi z nią zespołami, co powinno przyczynić się do poprawy nadzoru epidemiologicznego.2

Monitorowanie i badania naukowe

Istnieje potrzeba zwiększenia świadomości na temat zespołu hipermobilności stawów i spektrum dziedzicznych zaburzeń tkanki łącznej (HDCTs).1 Są to częste stany, które często pozostają niezdiagnozowane lub ich diagnoza zajmuje wiele lat, albo są błędnie diagnozowane jako inne schorzenia.2

Jeśli zespół hipermobilności stawów i inne dziedziczne choroby tkanki łącznej nie zostaną wykryte podczas badania fizykalnego, mogą pojawić się następujące problemy: niewłaściwe i potencjalnie szkodliwe etykietowanie lub leczenie na podstawie błędnej diagnozy, takiej jak fibromialgia, choroba zwyrodnieniowa krążków międzykręgowych, hipochondria lub choroba zwyrodnieniowa stawów.3

Potrzebne są duże, przekrojowe i prospektywne badania, aby określić, czy istnieją różnice fenotypowe między hEDS i HSD, jeśli takie istnieją, oraz czy powinny być one leczone w podobny sposób.1 Przyszłe badania są również konieczne do walidacji kryteriów diagnostycznych, narzędzi samooceny i pomiarów fizycznych w populacji pediatrycznej.2

Heterogeniczność wyników pomiarów raportowanych w literaturze utrudniła próby opracowania wytycznych dotyczących oceny klinicznej i postępowania terapeutycznego.1 Dlatego też potrzebne są kompleksowe badania, które pozwolą na lepsze zrozumienie epidemiologii i naturalnego przebiegu zespołu hipermobilności stawów.1

Wpływ czynników genetycznych i środowiskowych

Zespół hipermobilności stawów wykazuje silny komponent genetyczny z autosomalnym dominującym wzorcem dziedziczenia.11 Podłoże genetyczne tego zaburzenia nie zostało jednak w pełni poznane i nadal jest przedmiotem badań.

Podłoże genetyczne

Zespół hipermobilności stawów, podobnie jak hipermobilny zespół Ehlersa-Danlosa (hEDS), uważany jest za dziedziczony w sposób autosomalny dominujący z niepełną penetracją.1 W przypadku hEDS patogeneza jest nadal badana, ale obejmuje wiotkość mięśni i ścięgien, zmniejszoną propriocepcję, znacznie zaburzoną strukturę tkanki łącznej oraz zmiany w ekspresji genów.2

Warianty (znane również jako mutacje) w co najmniej 20 genach zostały powiązane z zespołami Ehlersa-Danlosa. Warianty w genie TNXB powodują typ klasycznopodobny i zostały zgłoszone w bardzo małym odsetku przypadków typu hipermobilnego (chociaż u większości osób z tym typem przyczyna jest nieznana).1

Niektóre z genów związanych z zespołami Ehlersa-Danlosa, w tym COL1A1, COL1A2, COL3A1, COL5A1 i COL5A2, dostarczają instrukcji do tworzenia fragmentów różnych typów kolagenu. Te fragmenty łączą się, tworząc dojrzałe cząsteczki kolagenu, które nadają strukturę i wytrzymałość tkankom łącznym w całym organizmie. Inne geny, w tym ADAMTS2, FKBP14, PLOD1 i TNXB, dostarczają instrukcji do tworzenia białek, które przetwarzają, składają lub wchodzą w interakcję z kolagenem. Warianty w którymkolwiek z tych genów zakłócają produkcję lub przetwarzanie kolagenu, uniemożliwiając prawidłowe składanie tych cząsteczek. Te zmiany osłabiają tkanki łączne w skórze, kościach i innych częściach ciała, prowadząc do charakterystycznych cech zespołów Ehlersa-Danlosa.1

Czynniki środowiskowe i rozwojowe

Podstawowe determinanty uogólnionej hipermobilności stawów (GJH) pozostają nieznane.1 Złożone oddziaływanie między genetycznymi i funkcjonalnymi interakcjami fizjologicznymi danej osoby a wpływami środowiskowymi przyczynia się do ich prezentacji fenotypowej.2

Zarządzanie uogólnioną hipermobilnością stawów w kontekście złożonego, wielosystemowego schorzenia będzie różnić się od postępowania w przypadku nabytej hipermobilności, często obserwowanej u artystów występujących na scenie, określonych populacji sportowców, po urazie itp.1

Mimo że hipermobilność stawów najczęściej jest bezobjawowa i wymaga identyfikacji jedynie w celu nadzoru ryzyka i zarządzania, zapobiegania urazom związanym z konkretnymi zadaniami lub poprawy wydajności, ta forma hipermobilności nie wymaga medykalizacji.1 Jednak u osób, które doświadczają objawów związanych z hipermobilnością stawów, bardziej rozszerzona ocena w celu określenia stawów i płaszczyzn ruchu dotkniętych problemem wraz z indywidualną oceną funkcjonalną pozwoli na ukierunkowane postępowanie.2

Implikacje dla zdrowia publicznego

Zespół hipermobilności stawów, tradycyjnie uważany za rzadkie zaburzenie, w świetle nowych danych epidemiologicznych wydaje się być bardziej powszechny niż wcześniej sądzono, co ma istotne implikacje dla zdrowia publicznego.11

Wczesna diagnostyka i interwencja

Wczesna diagnoza zespołu hipermobilności stawów jest istotna dla zapobiegania i zmniejszania powikłań związanych z chorobą oraz niewłaściwej opieki medycznej, szczególnie biorąc pod uwagę wielosystemowe zaangażowanie choroby i częstość nieprawidłowo diagnozowanych pacjentów.1

Prawidłowe rozpoznanie zespołu hipermobilności stawów wymaga wykluczenia innych schorzeń, które mogą wywoływać te same objawy. Nie ma badania laboratoryjnego ani obrazowego, które mogłoby udowodnić, że ktoś ma lub nie ma typu HSD. Dlatego ważne jest wykluczenie wszelkich innych stanów, które mogą powodować objawy danej osoby, ponieważ postępowanie w tych przypadkach może być inne.1

Możliwe jest, aby osoba z diagnozą HSD później rozwinęła inny stan, taki jak toczeń. W takim przypadku mieliby oni zarówno diagnozę HSD, jak i tocznia.2 Diagnoza danej osoby może się zmieniać w czasie, ponieważ ludzie mogą doświadczać nowych objawów, które mogą zmienić sposób klasyfikacji ich stanu.1

Opieka i postępowanie terapeutyczne

Zarządzanie zespołem hipermobilności stawów stanowi znaczące wyzwanie i zazwyczaj obejmuje leczenie objawowe, w tym fizjoterapię, rehabilitację i terapię farmakologiczną. Dodatkowo kluczowe jest podejście multidyscyplinarne, obejmujące współpracę z różnymi specjalistami.1

Edukacja pacjenta mająca na celu wyeliminowanie nieprawidłowego ruchu stawów oraz odpowiedni program rehabilitacji odgrywają kluczową rolę w leczeniu zespołu hipermobilności stawów.1

Istnieje możliwość, że osoby z diagnozą G-HSD (Generalized Hypermobility Spectrum Disorder) są niedostatecznie leczone ze względu na postrzeganie, że ich stan jest mniej poważny niż hEDS.1 Obecnie zasady i rodzaje postępowania są takie same zarówno dla HSD, jak i hEDS. Oba stany wymagają świadomości, rozpoznania, walidacji i opieki.2

Implikacje ekonomiczne i społeczne

Zespół hipermobilności stawów, będący zaburzeniem tkanki łącznej, charakteryzuje się niestabilnością stawów, przewlekłym bólem i niewielkimi zmianami skórnymi. Szacuje się, że około 3% populacji ogólnej ma zespół hipermobilności stawów, ale pomimo tego wysokiego rozpowszechnienia, ze względu na brak świadomości, heterogeniczność prezentacji klinicznej i poleganie na badaniu fizykalnym do diagnozy, jest on w dużej mierze przeoczany przez lekarzy podstawowej opieki zdrowotnej, jak również przez specjalistów. Prowadzi to do opóźnień lub utraconych możliwości diagnozy oraz niewłaściwych interwencji, które frustrują zarówno świadczeniodawców, jak i pacjentów.1

Badania wykazały, że osoby z EDS, które doświadczają bólu pleców, bólu stawów i wiotkości stawów, są bardziej narażone (67,1%) na otrzymanie diagnozy co najmniej jednego schorzenia reumatologicznego, gdy przechodzą dokładną ocenę serologiczną i radiograficzną swoich problemów mięśniowo-szkieletowych, wraz z badaniem fizykalnym.1

Mimo że hipermobilność może być ogólna lub ekstremalna w niewielkiej liczbie stawów, ważne jest, aby lekarze zajmujący się bólem rozpoznali, kiedy występuje. Istotne jest odróżnienie JHS od naczyniowego zespołu Ehlersa-Danlosa, na przykład, aby zapobiec zagrażającym życiu krwotokom naczyniowym z pęknięć tętnic w tym ostatnim stanie.12

Brak długotrwałej ulgi w którymkolwiek z tradycyjnych metod leczenia zapewnia ponurą prognozę dla każdego, kto żyje z przewlekłym, upośledzającym bólem zespołu hipermobilności stawów i zespołu Ehlersa-Danlosa.1 Wspólną wadą każdego z tych tradycyjnych metod leczenia jest ich niezdolność do naprawy osłabionych tkanek łącznych powodujących hipermobilność.2

Nowe metody leczenia, takie jak proloterapia, mogą przyczynić się do leczenia zaburzeń hipermobilności poprzez zapobieganie rozwojowi przedwczesnej choroby zwyrodnieniowej stawów. Kombinacja ekstremalnej hipermobilności i powtarzających się urazów jest prawdopodobnie tym, co prowadzi do wczesnej choroby zwyrodnieniowej stawów.34

Wskaźniki jakości życia i niepełnosprawności

Zespół hipermobilności stawów może znacząco wpływać na jakość życia osób dotkniętych tym zaburzeniem, prowadząc do różnych stopni niepełnosprawności i ograniczeń funkcjonalnych.1

Wpływ na jakość życia

Mimo że zespół hipermobilności stawów jest często przewlekłym stanem, rokowanie dla pacjentów z BJHS jest ogólnie dobre ze względu na nieprogresywny charakter zespołu oraz zmniejszoną wiotkość stawów i objawy, które występują wraz z wiekiem.1 Jednak biorąc pod uwagę liczne następstwa, które mogą się rozwinąć, oraz potencjalny wpływ BJHS na jakość życia, niektórzy eksperci kwestionują, dlaczego BJHS jest nazywany łagodnym zaburzeniem; zamiast tego, odnoszą się do zaburzenia jako zespołu hipermobilności stawów.2

Potencjalne powikłania BJHS podkreślają znaczenie wczesnej diagnozy i edukacji pacjenta.3 Ze względu na złożoność i różnorodność manifestacji klinicznych, zespół hipermobilności stawów wymaga kompleksowego podejścia do leczenia, obejmującego współpracę z różnymi specjalistami.2

Współwystępowanie z innymi zaburzeniami

Zespół hipermobilności stawów często współwystępuje z innymi zaburzeniami, co może dodatkowo komplikować obraz kliniczny i wpływać na jakość życia pacjentów. W ostatnich latach pojawił się kliniczny opis przypadku zespołu fibromialgii z hipermobilnością rozwijającego się po zakażeniu COVID-19. Nakładanie się JHS i fibromialgii wynosi 80%, jednak wyjaśnienie pozostaje nieznane.2

Badanie przeprowadzone przez Kim i wsp. z wykorzystaniem National Inpatient Sample (NIS) z lat 2000-2012 wykazało, że w porównaniu z grupą kontrolną, hospitalizowani pacjenci z EDS mają znacznie większe prawdopodobieństwo cierpienia na różne schorzenia naczyniowo-mózgowe, w tym rozwarstwienie tętnicy szyjnej, rozwarstwienie tętnicy kręgowej, tętniaka tętnicy szyjnej, tętniaka mózgu i malformację naczyniowo-mózgową.1

Występowanie hipermobilności stawów u osób z reumatoidalnym zapaleniem stawów może wskazywać na progresję choroby, podkreślając rozwój powszechnych problemów stawowych i lokalnych manifestacji.2

Strategie adaptacyjne i wsparcie

W przypadku zespołu hipermobilności stawów u dzieci, szkoły powinny zachęcać dotknięte nim dzieci do udziału w sporcie, jednocześnie uwzględniając zmniejszoną wytrzymałość dziecka.1 U większości dzieci objawy poprawiają się wraz ze wzrostem rozmiaru i siły mięśni wraz z rozwojem i wiekiem.2

Posiadanie elastycznych stawów (hipermobilność) jest powszechnie korzyścią w sporcie i tańcu i jest obserwowane u wielu odnoszących sukcesy sportowców.1 Jednak zwiększona elastyczność i zdolność do rozciągania może nie tylko prowadzić do bólu, utraty sprawności, zmęczenia i niskiej samooceny, ale także do urazów.2

Większość przypadków zareaguje na stopniowe ćwiczenia i wsparcie, a dla większości dzieci nie będzie długoterminowych konsekwencji fizycznych.1 Dla niewielkiego odsetka dzieci objawy są bardziej dotkliwe i wymagają intensywniejszego wsparcia.2

Kompleksowe strategie zarządzania mogą pomóc osobom z zespołem hipermobilności stawów osiągnąć lepszą kontrolę bólu i poprawić funkcjonowanie, umożliwiając im prowadzenie bardziej satysfakcjonującego życia.3

Tendencje i prognozy epidemiologiczne

Analiza danych epidemiologicznych dotyczących zespołu hipermobilności stawów wskazuje na zmieniające się trendy w częstości występowania i rozpoznawalności tego zaburzenia, co ma istotne implikacje dla przyszłych kierunków badań i praktyki klinicznej.1

Aktualne tendencje

W badaniu analizującym epidemiologię EDS i JHS zaobserwowano stale rosnącą częstość diagnozowania w ciągu ostatnich 27 lat, a także wyższe wskaźniki diagnoz dla innych schorzeń i recept w ciągu 12 miesięcy (przed i po) zarejestrowanej pierwszej diagnozy w większości kategorii. Sugeruje to, że hEDS/HSD, gdy są rozważane razem, nie spełniają definicji rzadkich stanów i mają szeroki wpływ na wiele układów organizmu.2

Zespoły Ehlersa-Danlosa były historycznie uważane za rzadkie choroby, definowane w Unii Europejskiej jako te dotykające mniej niż 50 na 100 000 osób.1 Jednak najnowsze dane sugerują, że zarówno zespół hipermobilności stawów, jak i hipermobilny zespół Ehlersa-Danlosa są bardziej powszechne niż wcześniej sądzono.1

Eksperci uważają również, że wszystkie te dane dotyczące częstości występowania są niedoszacowane, ponieważ wiele osób z EDS lub HSD nie jest diagnozowanych, lub zajmuje im wiele lat, aby uzyskać diagnozę, albo są błędnie diagnozowani z innym stanem.1

Prognozy na przyszłość

Zbiorczy temat badawczy przedstawiający artykuły związane ze zrozumieniem częstości występowania choroby, manifestacji wielosystemowych, najlepszych praktyk leczenia i zarządzania, a nawet przyszłych celów w celu wypełnienia obecnych luk w wiedzy pomoże zwiększyć świadomość świadczeniodawców opieki zdrowotnej i ostatecznie poprawić wyniki pacjentów.1

Potrzebne są dalsze badania, aby poprawić nasze zrozumienie zespołu hipermobilności stawów i opracować interwencje oparte na solidnych dowodach.1 Podkreśla to konieczność przyszłych badań skupiających się na tym podejściu, aby lepiej zrozumieć wieloaspektową naturę JHS, wyzwania w jego diagnostyce, znaczenie kompleksowych badań oraz kluczową rolę ukierunkowanych terapii w zarządzaniu jego manifestacjami.3

Podczas gdy główny autor ma dwudziestoletnie doświadczenie w leczeniu objawów mięśniowo-szkieletowych JHS i EDS za pomocą proloterapii, przyszłe badania będą musiały być przeprowadzone, aby najlepiej udokumentować dokładną rolę, jaką proloterapia odgrywa w leczeniu objawów mięśniowo-szkieletowych i hipermobilności JHS i EDS oraz czy może zapobiec przyszłej degeneracji stawów u tych osób.1

Grupa demograficzna Rozpowszechnienie hipermobilności stawów Uwagi
Populacja ogólna 10-25% Hipermobilność bez objawów chorobowych
Dzieci (wiek szkolny) 6,7-57% Zależne od wieku, pochodzenia etnicznego i kryteriów oceny
Dziewczęta (wiek nastoletni) Do 40% Wyższa częstość niż u chłopców
Chłopcy (wiek nastoletni) Około 10% Niższa częstość niż u dziewcząt
Zespół hipermobilności stawów (JHS) 3-19,5% Diagnostyka wg kryteriów Brighton
Hipermobilny zespół Ehlersa-Danlosa (hEDS) 1 na 5000-20000 Najpowszechniejszy typ EDS
Populacja azjatycka Wyższa niż w populacji europejskiej Różnice etniczne w mobilności stawów
Populacja afrykańska Wyższa niż w populacji europejskiej Różnice etniczne w mobilności stawów
Populacja bliskowschodnia Wyższa niż w populacji europejskiej Różnice etniczne w mobilności stawów

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Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
    https://www.mdpi.com/2218-273X/14/4/472
    Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS prevalence exhibits wide variation among different populations, with estimates ranging from 10% to 30% in various studies, contingent upon diagnostic criteria and studied cohort demographics. In up to 50% of cases, first-degree relatives with the disorder can be identified. JHS as EDS is the most common type of heritable connective tissue disorder (HCTD). […] Diagnosing JHS involves a comprehensive assessment integrating clinical evaluation, joint mobility scoring systems (like the Beighton score), and, in select cases, genetic testing to exclude other hereditary connective tissue disorders. […] The occurrence of joint hypermobility among individuals with rheumatoid arthritis can indicate a progression of the disease, highlighting the development of common joint issues and local manifestations.
  • #1 Joint Hypermobility Syndrome – Sports Medicine Review
    https://www.sportsmedreview.com/blog/joint-hypermobility-syndrome/
    Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), refers to a combination of signs and symptoms incorporating multiple body systems, including the musculoskeletal, cardiovascular, gastrointestinal, urogenital and neurological/autonomic systems, where joint hypermobility is a key feature. Benign joint hypermobility syndrome (BJHS), or generalized hypermobility disorder (GHD) is characterized by generalized ligamentous laxity and the presence of musculoskeletal pain without signs of systemic rheumatologic disease. […] Although the epidemiology of JHS/hEDS has not been thoroughly explored, the prevalence in the general population has been estimated between 0.75% and 2% with women being much more frequently affected than men. […] There is about a 4 – 13% prevalence of generalized hypermobility in the general population in the absence of any systemic disease. […] In summary, one of the common causes of unexplained joint pain is joint hypermobility syndrome (JHS). It is frequently misdiagnosed in primary care settings. Recognition of generalized joint hypermobility is very difficult and less than 10% of cases are being recognized.
  • #1 Benign Joint Hypermobility Syndrome in Children | PM&R KnowledgeNow
    https://now.aapmr.org/benign-joint-hypermobility-syndrome-in-children/
    Asymptomatic GJH is common in children. Prevalence of GJH has been reported in 6.7-57% of children depending upon age, ethnicity and criteria used to determine hypermobility. […] JHSs prevalence is estimated to be from 3% to 19.5%. It is difficult to determine true prevalance of JHS due to variable clinical presentations, absence of a confirmatory test, and the incorrect labeling of JHS without meeting full Brighton criteria. […] The prevalence of GJH and JHS decrease with age, and both are more prevalent in females than in males. Hypermobility appears to be more prevalent in certain racial and ethnic groups, notably among West Africans, Indians, Chinese, and Native American subgroups, but there is wide variation in prevalence even between different communities of the same country. […] There continues to be a significant lack of epidemiological and etiological data on JHS. […] The large heterogeneity among individuals with joint hypermobility with the wide range of associated extra-articular symptoms of JHS in the setting of outdated diagnostic criteria present challenges to the diagnosis and appropriate management of JHS.
  • #1
    https://reu.termedia.pl/Benign-joint-hypermobility-syndrome,57268,0,2.html
    Benign joint hypermobility syndrome (BJHS), commonly known as loose ligament syndrome, is a non-inflammatory rheumatic condition. The prevalence of the syndrome in preschool-age children is estimated to be between 2% and 30%, depending on ethnic background (with higher prevalence in Asian and African populations), occurring most often in families with a history of the condition and more frequently in girls. […] A broad differential diagnostic approach to recurrent joint inflammation with joint effusion and pain made it possible to establish a diagnosis of benign joint hypermobility syndrome. […] Patient education aimed at eliminating abnormal joint movement and an appropriate rehabilitation programme play key roles in the treatment of BJHS.
  • #1 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison – HDR UK
    https://www.hdruk.ac.uk/resources/diagnosed-prevalence-of-ehlers-danlos-syndrome-and-hypermobility-spectrum-disorder-in-wales-uk-a-national-electronic-cohort-study-and-case-control-comparison/
    Objectives To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. […] Results We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. […] Conclusions EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.
  • #1 Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders | AAFP
    https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
    Generalized joint hypermobility, a diagnostic criterion for hypermobile EDS, is more common than hypermobile EDS/hypermobility spectrum disorders because patients with generalized joint hypermobility may be asymptomatic. When assessed in student population samples using 2017 criteria, 4% to 11% of children three to 19 years of age had generalized joint hypermobility. The percentage of people with generalized joint hypermobility who are eventually diagnosed with hypermobile EDS/hypermobility spectrum disorders is unknown. […] Hypermobile EDS is considered to be inherited in an autosomal dominant manner with incomplete penetrance. The pathogenesis of hypermobile EDS and hypermobility spectrum disorders is still being unraveled but involves muscle and tendon laxity, reduced proprioception, significantly disordered connective tissue structure, and alterations in gene expression.
  • #1 Hypermobility (joints) – Wikipedia
    https://en.wikipedia.org/wiki/Hypermobility_(joints)
    Hypermobile joints occur in about 10 to 25% of the population. […] Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. […] Generalized hypermobility is a common feature in all these hereditary connective tissue disorders and many features overlap, but often features are present that enable differentiating these disorders.
  • #1 Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management
    https://www.degruyter.com/document/doi/10.7556/jaoa.2006.106.9.531/html?lang=en
    Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. […] Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] Among studies examining the prevalence of generalized hypermobility in patients referred to rheumatologists, one study found that hypermobility occurred in 66% of school children with arthralgia of unknown etiology. […] Benign joint hypermobility syndrome has a strong genetic component with an autosomal dominant pattern. […] The prognosis for patients with BJHS is generally good owing to the syndrome’s nonprogressive nature and decreased joint laxity and symptoms that occur with age. […] Given the many sequelae that may develop and the potential impact of BJHS on quality of life, some experts are questioning why BJHS is called a benign disorder; instead, they refer to the disorder as joint hypermobility syndrome. […] The potential complications of BJHS underscore the importance of making an early diagnosis and educating the patient.
  • #1 Epidemiology of Generalized Joint Laxity (Hypermobility) in Fourteen-Year-Old Children From the UK: A Population-Based Evaluation
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3164233/
    The hypermobility research was supported by Arthritis Research UK (grant 18185). […] Although diagnostic criteria for generalized ligamentous laxity (hypermobility) in children are widely used, their validity may be limited, due to the lack of robust descriptive epidemiologic data on this condition. The present study was undertaken to describe the point prevalence and pattern of hypermobility in 14-year-old children from a population-based cohort. […] Among the 6,022 children evaluated, the prevalence of hypermobility (defined as a Beighton score of 4 [i.e., 4 joints affected]) in girls and boys age 13.8 years was 27.5% and 10.6%, respectively. […] We have shown that the prevalence of hypermobility in UK children is high, possibly suggesting that the Beighton score cutoff of 4 is too low or that this scoring is not appropriate for use in subjects whose musculoskeletal system is still developing.
  • #1
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    This comprehensive review on the full spectrum of joint hypermobility will assist clinicians, coaches/sports trainers, educators, and/or researchers in this area. […] The primary aim is to provide a clinical overview about identification of hypermobility forms. […] The resulting synthesis of the science article has been contributed to and reviewed by an internationally recognized multidisciplinary team of allied health professionals and medical specialists from the Ehlers-Danlos Syndrome International Consortium, who are tasked to develop evidence-informed management and care guidelines. […] The prevalence of joint hypermobility has been reported as ranging from 5% to 40% in children and 10% to 20% in adults. […] Joint hypermobility is more prevalent in females than in males. […] Proposed explanations for these sex-related differences include, but are not limited to, hormonal, anatomical, and neuromuscular differences.
  • #1
    https://journals.lww.com/mgim/fulltext/2016/21010/benign_joint_hypermobility_syndrome.4.aspx
    Benign joint hypermobility syndrome (BJHS) is a common yet poorly recognized disorder of joint in children and adults. […] The incidence in school going children may be as high as 40%. Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] It also appears to vary with sex and race. […] Females are generally more mobile than males of the same age group. […] Mobility decreases with advancing age. […] There are noticeable racial differences in joint mobility among normal populations. […] People of Asian, Middle Eastern, and African descent have increased joint laxity as compared to Europeans and Americans. […] In a study done on Iranian army, recruits showed that joint hypermobility was seen in 29.4% which is relatively very high as compared to what the current data suggests. […] One study found that hypermobility occurred in 66% of school children presenting to rheumatologists with arthralgia of unknown etiology. […] BJHS is likely to be genetically heterogeneous, and candidate genes are under investigation.
  • #1
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    The underlying determinants of GJH remain unknown. […] The complex interplay between an individual’s genetic and functional physiological interactions and environmental influences contributes to their phenotypic presentation. […] The heterogeneity of measurement outcomes reported in the literature has hindered attempts to produce clinical assessment and management guidelines. […] While joint hypermobility is most commonly asymptomatic warranting identification only for risk surveillance and management, task-specific injury prevention, or performance enhancement, this form of hypermobility does not need to be medicalized. […] However, in those who experience symptoms associated with their joint hypermobility, more extensive assessment to determine the joint(s) and plane(s) of movement affected together with patient-specific and objective functional assessments will permit targeted management.
  • #1 Joint Hypermobility Syndrome: A Narrative Review, American Journal of Internal Medicine, Science Publishing Group
    https://www.sciencepublishinggroup.com/article/10.11648/j.ajim.20231103.12
    Joint hypermobility syndrome (JHS) is a complex connective tissue disorder characterized by excessive joint mobility and chronic musculoskeletal pain. The condition extends beyond the joints and can affect various systems such as the skin, gastrointestinal tract, neurological system, and cardiovascular system, necessitating a multidisciplinary approach to optimize care. Notably, the prevalence of JHS is higher in young individuals, females, and those of Asian descent. […] Despite being a common condition, JHS is frequently underdiagnosed, resulting in persistent pain and disability. In order to diagnose JHS, it is necessary to rule out the presence of any consistent feature that indicates the existence of other connective tissue disorders that partially overlap with it, including Marfan and Ehlers-Danlos syndromes. A thorough clinical assessment, coupled with the application of the Brighton Criteria, can aid in making an accurate diagnosis. Management of JHS poses significant challenges and typically involves symptomatic treatment, including physiotherapy, rehabilitation, and pharmacological therapy. Additionally, a multidisciplinary approach, including collaboration with different specialists, is vital. Further research is needed to improve our understanding of JHS and develop interventions based on solid evidence. However, with comprehensive management strategies, individuals with JHS can achieve better pain control and improved function, enabling them to lead more fulfilling lives.
  • #1
    https://link.springer.com/article/10.1007/s00296-021-04832-4
    The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). […] It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. […] The diagnosed prevalence of the conditions EDS and Joint Hypermobility Syndrome (JHS), which are associated with GJH, has been found to be 1 in 500, although GJH is also present in the general healthy population. […] Since its creation in 1973, the BS has remained unchanged, and adopted both for research purposes and as a clinical diagnostic tool. However, it was originally developed as an epidemiological tool, involved in screening large populations for GJH.
  • #1
    https://link.springer.com/article/10.1007/s00296-021-04832-4
    The continued use of the BS as a clinical diagnostic tool, particularly within the 2017 International Classification of EDS for the diagnosis of hypermobile EDS (hEDS), therefore, remains controversial since it was originally intended as a screening tool. […] This review has demonstrated that insufficient evidence exists to justify use of the BS as a method to exclude the presence of GJH, or to differentiate GJH from localised hypermobility. […] The evidence presented here brings into question the validity of the BS as a direct and indirect indicator of GJH, and disputes its continued use as a diagnostic tool.
  • #1 Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders | AAFP
    https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
    Hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders are the most common symptomatic joint hypermobility conditions seen in clinical practice. The exact prevalence of hypermobile EDS/hypermobility spectrum disorders is unknown. The best estimates of the population prevalence of these conditions are derived from studies in national or patient registries from Sweden and Wales, United Kingdom, using diagnostic codes for EDS and joint hypermobility syndrome, the latter a prior term for hypermobile EDS, as discussed previously. The combined hypermobile EDS/hypermobility spectrum disorders prevalence would be expected to be lower than the 0.13% to 0.19% prevalence that these two studies found for all EDS and joint hypermobility syndrome codes combined. This prevalence equates to about seven to 10 patients out of a 5,000-patient panel. Another estimate of combined hypermobile EDS/hypermobility spectrum disorders prevalence from a U.K. population survey found that 3.4% of adults endorsed hypermobility and chronic widespread pain using validated instruments.
  • #1 Are the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Rare or Common? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/prevalence/
    These studies showed similar findings in that the overall / combined prevalence of JHS and EDS was between 1 in 500 and 1 in 800. […] However, breaking this down into JHS or EDS the studies showed that: the prevalence of JHS was approx. 1 in 600 to 1 in 900, and the prevalence of all types of EDS was approx. 1 in 3000 to 1 in 5000. […] JHS was found to be 5 times more common than EDS. […] After 2017 the term JHS was dropped. Instead, this population in the community is now described as having either hypermobility spectrum disorder (HSD) or hypermobile EDS (hEDS) based on the 2017 International criteria for hEDS and descriptors for HSD. […] The combined prevalence of HSD and hEDS is in the order of 1 in 600 to 1 in 900. […] Expert opinion is that HSD is common and that hEDS is likely to be common. […] Experts also believe that all these prevalence figures are underestimates because many people with EDS or HSD do not get diagnosed, or it takes many years to get diagnosed, or they are misdiagnosed with another condition.
  • #1 Joint hypermobility and EDS/HT Overview | Task Oriented Movement Therapy
    http://tomt.skillsforaction.com/therapy/joint-hypermobility-EDS
    Joint hypermobility syndrome(JHS) is diagnosed when there is joint hypermobility in 4 or more joints along with other signs and symptoms as listed in the Brighton Criteria. […] There are a range of connective tissue disorders that have joint hypermobility as a feature. Some of these disorders have particular vascular sometimes life threatening features that need to be recognized.
  • #1 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    The weakness of these ligaments is what allows joints to hyperextend beyond the normal physiological limits. […] Joint hypermobility, a key finding in the heritable disorders of connective tissues, is diagnostically evaluated according to the Brighton Criteria, which utilizes the Beighton Score. […] Determining the Beighton score is essential for making the diagnosis of JHS because it measures generalized joint laxity. […] According to the Brighton criteria, a score of four or higher on the Beighton Scale indicates generalized joint laxity and this along with athralgia in four or more joints for longer than three months signifies joint hypermobility syndrome. […] While joint hypermobility is very common, occurring in 10-20% of populations of Western countries, and higher still in those in Indian, Chinese, and Middle Eastern groups, it is important to distinguish between joint hypermobility and Joint Hypermobility Syndrome.
  • #1 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    There is an urgent need to increase the awareness of JHS and spectrum of HDCTs. […] These are prevalent conditions that are frequently undiagnosed and that can cause significant health problems. […] If joint hypermobility syndrome and the other inherited connective diseases are missed on a physical examination the following problems may arise: Inappropriate and potentially harmful labeling or treatments may be applied on the basis of an erroneous diagnosis such as fibromyalgia, degenerative disc disease, hypochondriasis, or degenerative arthritis. […] While hypermobility may be generalized or extreme in a small number of joints, it is important for pain physicians to recognize when it is present. […] It is important to differentiate JHS from the Vascular Ehlers-Danlos Syndrome, for instance, to prevent life threatening vascular hemorrhages from arterial ruptures in the latter condition.
  • #1
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    It is possible that those diagnosed with G-HSD are undermanaged because of the perception that their condition is less severe than hEDS. […] Large, cross-sectional and prospective studies are needed to determine whether there are phenotypic differences between the 2 cohorts if they exist and whether they should be managed similarly. […] Finally, future research is warranted to validate diagnostic criteria, self-report, and physical measures in the pediatric population.
  • #1 Research Advances in Understanding the Etiology, Epidemiology, Pathophysiology, Clinical Features, and Management of the Ehlers Danlos Syndrome Disorders | Frontiers Research Topic
    https://www.frontiersin.org/research-topics/31428/research-advances-in-understanding-the-etiology-epidemiology-pathophysiology-clinical-features-and-management-of-the-ehlers-danlos-syndrome-disorders/magazine
    Moreover, the prevalence of certain subtypes like hEDS remain underappreciated, as does the mechanism driving hEDS-related pathology and co-morbid conditions, such as orthostatic intolerance or immunologic dysfunction. […] A collective research topic presenting articles related to understanding disease prevalence, multisystem manifestations, best treatment and management practices, and even future goals to fill current knowledge gaps will help to enable healthcare provider awareness and ultimately improve patient outcomes.
  • #1 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    Joint Hypermobility Syndrome (JHS) is a largely under-recognized and poorly understood multi-systemic hereditary connective tissue disorder which manifests in a variety of different clinical presentations. […] Studies have indicated that JHS affects 2%5% of the general population, although it is estimated that 1 in 20 hypermobile patients have not been diagnosed for their disorder. […] At present, there are six primary known classifications of EDS: Classic, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. […] The hypermobility type, which is found to be the most common, is estimated to affect one in every 10,000 to 15,000 individuals. […] JHS has a strong genetic component with an autosomal dominant pattern. […] The syndrome appears to be due to an abnormality in collagen or in the ratio of collagen subtypes.
  • #1 Ehlers-Danlos syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/
    The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few cases or affected families described in the medical literature. […] Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Variants in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Variants in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this type, the cause is unknown).
  • #1 Ehlers-Danlos syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/
    Some of the genes associated with the Ehlers-Danlos syndromes, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, FKBP14, PLOD1, and TNXB, provide instructions for making proteins that process, fold, or interact with collagen. Variants in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of the Ehlers-Danlos syndromes. […] The inheritance pattern of the Ehlers-Danlos syndromes varies by type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the variant from one affected parent. Other cases result from new (de novo) gene variants and occur in people with no history of the disorder in their family.
  • #1
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    There is exponential clinical and research interest in joint hypermobility due to recognition of the complexity of identification, assessment, and its appropriate referral pathways, ultimately impacting management. […] The major topics covered are (i) historical perspectives; (ii) current definitions of hypermobility, laxity, and instability; (iii) inheritance and acquisition of hypermobility; (iv) traditional and novel assessments; (v) strengths and limitations of current assessment tools; (vi) age, sex, and racial considerations; (vii) phenotypic presentations; (viii) generalized hypermobility spectrum disorder and hypermobility Ehlers-Danlos syndrome; and (ix) clinical implications and research directions. […] Management of generalized joint hypermobility in the context of a complex, multisystem condition will differ from that of acquired hypermobility commonly seen in performing artists, specific athletic populations, posttrauma, and so on.
  • #1 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison | BMJ Open
    https://bmjopen.bmj.com/content/9/11/e031365
    Objectives To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the musculoskeletal system. […] We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. […] EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered. […] For many decades, studies have quoted a prevalence rate of 1 in 5000 for EDS, although the origin of this figure is unclear, seeming to appear first in a medical textbook as an unreferenced reasonable estimate.
  • #1 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison | BMJ Open
    https://bmjopen.bmj.com/content/9/11/e031365
    Thus, these syndromes have long been categorised as rare diseases, defined in the European Union as those affecting fewer than 50 in 100000 people. […] It is possible to extrapolate a combined population prevalence figure for JHS and EDS for Sweden of around 120 per 100000 from a study focusing on comorbid mental health issues, but no investigators have thus far set out to investigate the combined diagnosed prevalence of JHS/EDS within a population. […] This work examined the epidemiology of EDS and JHS and found a combined diagnosed prevalence of 194.2 per 100000 (0.19%) or 1 in 500 people in Wales; hEDS or HSD within the 2017 classification. […] We found a steadily increasing rate of diagnosis over the past 27 years, as well as higher rates of diagnoses for other conditions and prescriptions within 12 months (before and after) of the recorded first diagnosis in most categories. This suggests that hEDS/HSD, when considered together, do not meet the definition of rare conditions and have widespread effects across multiple body systems.
  • #1 Research Advances in Understanding the Etiology, Epidemiology, Pathophysiology, Clinical Features, and Management of the Ehlers Danlos Syndrome Disorders | Frontiers Research Topic
    https://www.frontiersin.org/research-topics/31428/research-advances-in-understanding-the-etiology-epidemiology-pathophysiology-clinical-features-and-management-of-the-ehlers-danlos-syndrome-disorders/magazine
    The Ehlers Danlos Syndrome (EDS) disorders are a group of heritable connective tissue disorders generally characterized by joint hypermobility and variable manifestations involving the skin, soft tissue and other body systems. […] Although considered rare, the true prevalence is anticipated to be much higher than currently appreciated, primarily due to lack of awareness among the healthcare community. […] The most common subtype of EDS is likely hypermobile EDS (hEDS), the only subtype relying on a clinical diagnosis and currently without a defined genetic basis. […] Early diagnosis of EDS is important to prevent and reduce disease-related complications, as well as inappropriate medical care, especially given the presence of multisystem involvement of disease and frequency of un/misdiagnosed patients.
  • #1 What is HSD? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/what-is-hsd/
    We do not currently know the true prevalence of HSD. It is believed to be a common condition. (But unfortunately, it is not yet commonly diagnosed and treated!) […] HSD is diagnosed by medical history and physical examination. In the process, clinicians need to rule out other conditions that can cause the same symptoms. […] To be diagnosed with HSD, there should be evidence that the joint hypermobility is causing problems and it is not just an asymptomatic feature. […] There is no lab test or imaging study that can prove someone does or does not have a type of HSD. Therefore, it is important to rule out any other conditions that may be causing a persons symptoms because management of those conditions may be different. […] It is possible for someone diagnosed with HSD to then later develop another condition, such as lupus. In this case, they would have both an HSD and a lupus diagnosis.
  • #1 What is HSD? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/what-is-hsd/
    A persons diagnosis may change over time, as people may experience new symptoms that can change how their condition is classified. […] Joint hypermobility syndrome (or benign joint hypermobility syndrome) is an outdated diagnosis that should no longer be used. Most people who were previously diagnosed with joint hypermobility syndrome are now classified as having either hEDS or a type of HSD. […] At present, the principles and types of management are the same for both HSD and hEDS. Both conditions need awareness, recognition, validation, and care.
  • #1 Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain – University of Iowa
    https://iro.uiowa.edu/esploro/outputs/journalArticle/Joint-Hypermobility-Syndrome-Recognizing-a-Commonly/9984094329102771
    Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos syndrome, Hypermobility Type; enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists. This leads to delayed or missed opportunities for diagnosis, and inappropriate interventions that frustrate both providers and patients. […] We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain.
  • #1 Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
    https://www.mdpi.com/2218-273X/14/4/472
    The data indicate that individuals with EDS who experience back pain, joint pain, and joint laxity are more likely (67.1%) to receive a diagnosis of at least one rheumatological condition when they undergo a thorough serological and radiographic assessment for their musculoskeletal issues, alongside a physical examination. […] In recent years, a clinical case definition has emerged for fibromyalgia syndrome with hypermobility developing after a COVID-19 infection. The overlap between JHS and fibromyalgia is 80%, yet the explanation remains unknown. […] The Beighton scoring system stands as a widely employed assessment tool to gauge joint flexibility, commonly utilized in the evaluation of JHS. However, it is crucial to note that some individuals with JHS may not exhibit overt symptoms. […] This highlights the necessity for future research to focus on this approach to better understand the multifaceted nature of JHS, the challenges in its diagnosis, the significance of comprehensive studies, and the pivotal role of targeted therapies in managing its manifestations.
  • #1 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    The lack of long-lasting relief in any of these traditional treatments provides a grim prognosis for anyone living with the chronic disabling pain of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome. […] The common flaw in each of these traditional treatments is their inability to repair the weakened connective tissues causing the hypermobility. […] Prolotherapy offers great hope for those with symptoms from generalized hypermobility because it is designed to successfully treat the ligament and tissue laxity that accompanies JHS and EDS. […] Prolotherapy could also contribute to the treatment of hypermobility disorders by preventing the development of precocious osteoarthritis. […] The combination of extreme hypermobility and repeated injury is presumed to be what leads to the early osteoarthritis.
  • #1 Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/943567-overview
    A study by Kim et al using the 2000-2012 National Inpatient Sample (NIS) indicated that compared with controls, hospitalized patients with EDS have a significantly greater likelihood of suffering from various cerebrovascular conditions, including carotid dissection, vertebral dissection, cervical artery aneurysm, cerebral aneurysm, and cerebrovascular malformation. […] Ehlers-Danlos syndrome equally affects all races. […] Of the 6 major types of Ehlers-Danlos syndrome classified by Villefranche nosology, both males and females are equally affected, as the genetic coding causing the differing phenotypes are located on the autosomes (chromosomes 1-22) and not the sex chromosomes (X or Y). […] Ehlers-Danlos syndrome is a genetic disorder. As such, this syndrome and its various types are present at birth; however, symptoms may not become apparent until later in life.
  • #1 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)
    https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet
    Most cases will respond to graded exercise and support, and for most children there will be no long-term physical consequences. […] For a small percentage of children, symptoms are more severe and need more intensive support. […] HSDs are diagnosed from the presence of a set of symptoms, or 'criteria’. […] The Beighton hypermobility score is a 9-point scoring system based on little fingers, thumbs, elbows, knees and trunk. […] If your child is hypermobile and seems to have symptoms, read information like this leaflet and visit your GP, explaining what you think and that you would like a referral to physiotherapy or occupational therapy, or to a paediatrician with an interest in muscle and joint disorders. […] Schools should encourage affected children to take part in sport, whilst making allowances for the child’s reduced stamina. […] For most children, symptoms improve as muscle size and strength increase with growth and age.
  • #1 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)
    https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet
    Hypermobility spectrum disorders include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. […] Joint hypermobility and HSDs are very common in children of school age. […] Up to 4 in 10 of young teenage girls and about 1 in 10 of young teenage boys have hyper-flexible joints. […] HSDs are more common in Asian-American children and least common in African-American children. […] HSDs can be a problem for young people and for adults. […] Having flexible joints (hypermobility) is commonly an advantage in sport and dance, and is seen in many successful sportspeople. […] However, increased flexibility and ability to stretch can not only lead to pain, loss of fitness, tiredness and poor self-esteem, it can also lead to injury.
  • #1 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    While the primary author has twenty years experience treating JHS and EDS musculoskeletal symptoms with Prolotherapy, future studies will need to be conducted to best document the exact role Prolotherapy has in the treatment of the musculoskeletal symptoms and hypermobility of JHS and EDS and if it can prevent future joint degeneration in these individuals.
  • #2 Joint Hypermobility Syndrome – Sports Medicine Review
    https://www.sportsmedreview.com/blog/joint-hypermobility-syndrome/
    Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), refers to a combination of signs and symptoms incorporating multiple body systems, including the musculoskeletal, cardiovascular, gastrointestinal, urogenital and neurological/autonomic systems, where joint hypermobility is a key feature. Benign joint hypermobility syndrome (BJHS), or generalized hypermobility disorder (GHD) is characterized by generalized ligamentous laxity and the presence of musculoskeletal pain without signs of systemic rheumatologic disease. […] Although the epidemiology of JHS/hEDS has not been thoroughly explored, the prevalence in the general population has been estimated between 0.75% and 2% with women being much more frequently affected than men. […] There is about a 4 – 13% prevalence of generalized hypermobility in the general population in the absence of any systemic disease. […] In summary, one of the common causes of unexplained joint pain is joint hypermobility syndrome (JHS). It is frequently misdiagnosed in primary care settings. Recognition of generalized joint hypermobility is very difficult and less than 10% of cases are being recognized.
  • #2
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    This comprehensive review on the full spectrum of joint hypermobility will assist clinicians, coaches/sports trainers, educators, and/or researchers in this area. […] The primary aim is to provide a clinical overview about identification of hypermobility forms. […] The resulting synthesis of the science article has been contributed to and reviewed by an internationally recognized multidisciplinary team of allied health professionals and medical specialists from the Ehlers-Danlos Syndrome International Consortium, who are tasked to develop evidence-informed management and care guidelines. […] The prevalence of joint hypermobility has been reported as ranging from 5% to 40% in children and 10% to 20% in adults. […] Joint hypermobility is more prevalent in females than in males. […] Proposed explanations for these sex-related differences include, but are not limited to, hormonal, anatomical, and neuromuscular differences.
  • #2
    https://journals.lww.com/mgim/fulltext/2016/21010/benign_joint_hypermobility_syndrome.4.aspx
    Benign joint hypermobility syndrome (BJHS) is a common yet poorly recognized disorder of joint in children and adults. […] The incidence in school going children may be as high as 40%. Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] It also appears to vary with sex and race. […] Females are generally more mobile than males of the same age group. […] Mobility decreases with advancing age. […] There are noticeable racial differences in joint mobility among normal populations. […] People of Asian, Middle Eastern, and African descent have increased joint laxity as compared to Europeans and Americans. […] In a study done on Iranian army, recruits showed that joint hypermobility was seen in 29.4% which is relatively very high as compared to what the current data suggests. […] One study found that hypermobility occurred in 66% of school children presenting to rheumatologists with arthralgia of unknown etiology. […] BJHS is likely to be genetically heterogeneous, and candidate genes are under investigation.
  • #2
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    The underlying determinants of GJH remain unknown. […] The complex interplay between an individual’s genetic and functional physiological interactions and environmental influences contributes to their phenotypic presentation. […] The heterogeneity of measurement outcomes reported in the literature has hindered attempts to produce clinical assessment and management guidelines. […] While joint hypermobility is most commonly asymptomatic warranting identification only for risk surveillance and management, task-specific injury prevention, or performance enhancement, this form of hypermobility does not need to be medicalized. […] However, in those who experience symptoms associated with their joint hypermobility, more extensive assessment to determine the joint(s) and plane(s) of movement affected together with patient-specific and objective functional assessments will permit targeted management.
  • #2 Joint Hypermobility Syndrome: A Narrative Review, American Journal of Internal Medicine, Science Publishing Group
    https://www.sciencepublishinggroup.com/article/10.11648/j.ajim.20231103.12
    Joint hypermobility syndrome (JHS) is a complex connective tissue disorder characterized by excessive joint mobility and chronic musculoskeletal pain. The condition extends beyond the joints and can affect various systems such as the skin, gastrointestinal tract, neurological system, and cardiovascular system, necessitating a multidisciplinary approach to optimize care. Notably, the prevalence of JHS is higher in young individuals, females, and those of Asian descent. […] Despite being a common condition, JHS is frequently underdiagnosed, resulting in persistent pain and disability. In order to diagnose JHS, it is necessary to rule out the presence of any consistent feature that indicates the existence of other connective tissue disorders that partially overlap with it, including Marfan and Ehlers-Danlos syndromes. A thorough clinical assessment, coupled with the application of the Brighton Criteria, can aid in making an accurate diagnosis. Management of JHS poses significant challenges and typically involves symptomatic treatment, including physiotherapy, rehabilitation, and pharmacological therapy. Additionally, a multidisciplinary approach, including collaboration with different specialists, is vital. Further research is needed to improve our understanding of JHS and develop interventions based on solid evidence. However, with comprehensive management strategies, individuals with JHS can achieve better pain control and improved function, enabling them to lead more fulfilling lives.
  • #2 Are the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Rare or Common? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/prevalence/
    These studies showed similar findings in that the overall / combined prevalence of JHS and EDS was between 1 in 500 and 1 in 800. […] However, breaking this down into JHS or EDS the studies showed that: the prevalence of JHS was approx. 1 in 600 to 1 in 900, and the prevalence of all types of EDS was approx. 1 in 3000 to 1 in 5000. […] JHS was found to be 5 times more common than EDS. […] After 2017 the term JHS was dropped. Instead, this population in the community is now described as having either hypermobility spectrum disorder (HSD) or hypermobile EDS (hEDS) based on the 2017 International criteria for hEDS and descriptors for HSD. […] The combined prevalence of HSD and hEDS is in the order of 1 in 600 to 1 in 900. […] Expert opinion is that HSD is common and that hEDS is likely to be common. […] Experts also believe that all these prevalence figures are underestimates because many people with EDS or HSD do not get diagnosed, or it takes many years to get diagnosed, or they are misdiagnosed with another condition.
  • #2 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    There is an urgent need to increase the awareness of JHS and spectrum of HDCTs. […] These are prevalent conditions that are frequently undiagnosed and that can cause significant health problems. […] If joint hypermobility syndrome and the other inherited connective diseases are missed on a physical examination the following problems may arise: Inappropriate and potentially harmful labeling or treatments may be applied on the basis of an erroneous diagnosis such as fibromyalgia, degenerative disc disease, hypochondriasis, or degenerative arthritis. […] While hypermobility may be generalized or extreme in a small number of joints, it is important for pain physicians to recognize when it is present. […] It is important to differentiate JHS from the Vascular Ehlers-Danlos Syndrome, for instance, to prevent life threatening vascular hemorrhages from arterial ruptures in the latter condition.
  • #2
    https://journals.lww.com/jclinrheum/fulltext/2022/09000/international_perspectives_on_joint_hypermobility_.5.aspx
    It is possible that those diagnosed with G-HSD are undermanaged because of the perception that their condition is less severe than hEDS. […] Large, cross-sectional and prospective studies are needed to determine whether there are phenotypic differences between the 2 cohorts if they exist and whether they should be managed similarly. […] Finally, future research is warranted to validate diagnostic criteria, self-report, and physical measures in the pediatric population.
  • #2 Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders | AAFP
    https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
    Generalized joint hypermobility, a diagnostic criterion for hypermobile EDS, is more common than hypermobile EDS/hypermobility spectrum disorders because patients with generalized joint hypermobility may be asymptomatic. When assessed in student population samples using 2017 criteria, 4% to 11% of children three to 19 years of age had generalized joint hypermobility. The percentage of people with generalized joint hypermobility who are eventually diagnosed with hypermobile EDS/hypermobility spectrum disorders is unknown. […] Hypermobile EDS is considered to be inherited in an autosomal dominant manner with incomplete penetrance. The pathogenesis of hypermobile EDS and hypermobility spectrum disorders is still being unraveled but involves muscle and tendon laxity, reduced proprioception, significantly disordered connective tissue structure, and alterations in gene expression.
  • #2 What is HSD? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/what-is-hsd/
    We do not currently know the true prevalence of HSD. It is believed to be a common condition. (But unfortunately, it is not yet commonly diagnosed and treated!) […] HSD is diagnosed by medical history and physical examination. In the process, clinicians need to rule out other conditions that can cause the same symptoms. […] To be diagnosed with HSD, there should be evidence that the joint hypermobility is causing problems and it is not just an asymptomatic feature. […] There is no lab test or imaging study that can prove someone does or does not have a type of HSD. Therefore, it is important to rule out any other conditions that may be causing a persons symptoms because management of those conditions may be different. […] It is possible for someone diagnosed with HSD to then later develop another condition, such as lupus. In this case, they would have both an HSD and a lupus diagnosis.
  • #2 What is HSD? – The Ehlers Danlos Society
    https://www.ehlers-danlos.com/what-is-hsd/
    A persons diagnosis may change over time, as people may experience new symptoms that can change how their condition is classified. […] Joint hypermobility syndrome (or benign joint hypermobility syndrome) is an outdated diagnosis that should no longer be used. Most people who were previously diagnosed with joint hypermobility syndrome are now classified as having either hEDS or a type of HSD. […] At present, the principles and types of management are the same for both HSD and hEDS. Both conditions need awareness, recognition, validation, and care.
  • #2 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    The lack of long-lasting relief in any of these traditional treatments provides a grim prognosis for anyone living with the chronic disabling pain of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome. […] The common flaw in each of these traditional treatments is their inability to repair the weakened connective tissues causing the hypermobility. […] Prolotherapy offers great hope for those with symptoms from generalized hypermobility because it is designed to successfully treat the ligament and tissue laxity that accompanies JHS and EDS. […] Prolotherapy could also contribute to the treatment of hypermobility disorders by preventing the development of precocious osteoarthritis. […] The combination of extreme hypermobility and repeated injury is presumed to be what leads to the early osteoarthritis.
  • #2 Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management
    https://www.degruyter.com/document/doi/10.7556/jaoa.2006.106.9.531/html?lang=en
    Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. […] Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] Among studies examining the prevalence of generalized hypermobility in patients referred to rheumatologists, one study found that hypermobility occurred in 66% of school children with arthralgia of unknown etiology. […] Benign joint hypermobility syndrome has a strong genetic component with an autosomal dominant pattern. […] The prognosis for patients with BJHS is generally good owing to the syndrome’s nonprogressive nature and decreased joint laxity and symptoms that occur with age. […] Given the many sequelae that may develop and the potential impact of BJHS on quality of life, some experts are questioning why BJHS is called a benign disorder; instead, they refer to the disorder as joint hypermobility syndrome. […] The potential complications of BJHS underscore the importance of making an early diagnosis and educating the patient.
  • #2 Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
    https://www.mdpi.com/2218-273X/14/4/472
    The data indicate that individuals with EDS who experience back pain, joint pain, and joint laxity are more likely (67.1%) to receive a diagnosis of at least one rheumatological condition when they undergo a thorough serological and radiographic assessment for their musculoskeletal issues, alongside a physical examination. […] In recent years, a clinical case definition has emerged for fibromyalgia syndrome with hypermobility developing after a COVID-19 infection. The overlap between JHS and fibromyalgia is 80%, yet the explanation remains unknown. […] The Beighton scoring system stands as a widely employed assessment tool to gauge joint flexibility, commonly utilized in the evaluation of JHS. However, it is crucial to note that some individuals with JHS may not exhibit overt symptoms. […] This highlights the necessity for future research to focus on this approach to better understand the multifaceted nature of JHS, the challenges in its diagnosis, the significance of comprehensive studies, and the pivotal role of targeted therapies in managing its manifestations.
  • #2 Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
    https://www.mdpi.com/2218-273X/14/4/472
    Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS prevalence exhibits wide variation among different populations, with estimates ranging from 10% to 30% in various studies, contingent upon diagnostic criteria and studied cohort demographics. In up to 50% of cases, first-degree relatives with the disorder can be identified. JHS as EDS is the most common type of heritable connective tissue disorder (HCTD). […] Diagnosing JHS involves a comprehensive assessment integrating clinical evaluation, joint mobility scoring systems (like the Beighton score), and, in select cases, genetic testing to exclude other hereditary connective tissue disorders. […] The occurrence of joint hypermobility among individuals with rheumatoid arthritis can indicate a progression of the disease, highlighting the development of common joint issues and local manifestations.
  • #2 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)
    https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet
    Most cases will respond to graded exercise and support, and for most children there will be no long-term physical consequences. […] For a small percentage of children, symptoms are more severe and need more intensive support. […] HSDs are diagnosed from the presence of a set of symptoms, or 'criteria’. […] The Beighton hypermobility score is a 9-point scoring system based on little fingers, thumbs, elbows, knees and trunk. […] If your child is hypermobile and seems to have symptoms, read information like this leaflet and visit your GP, explaining what you think and that you would like a referral to physiotherapy or occupational therapy, or to a paediatrician with an interest in muscle and joint disorders. […] Schools should encourage affected children to take part in sport, whilst making allowances for the child’s reduced stamina. […] For most children, symptoms improve as muscle size and strength increase with growth and age.
  • #2 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)
    https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet
    Hypermobility spectrum disorders include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. […] Joint hypermobility and HSDs are very common in children of school age. […] Up to 4 in 10 of young teenage girls and about 1 in 10 of young teenage boys have hyper-flexible joints. […] HSDs are more common in Asian-American children and least common in African-American children. […] HSDs can be a problem for young people and for adults. […] Having flexible joints (hypermobility) is commonly an advantage in sport and dance, and is seen in many successful sportspeople. […] However, increased flexibility and ability to stretch can not only lead to pain, loss of fitness, tiredness and poor self-esteem, it can also lead to injury.
  • #2 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison | BMJ Open
    https://bmjopen.bmj.com/content/9/11/e031365
    Thus, these syndromes have long been categorised as rare diseases, defined in the European Union as those affecting fewer than 50 in 100000 people. […] It is possible to extrapolate a combined population prevalence figure for JHS and EDS for Sweden of around 120 per 100000 from a study focusing on comorbid mental health issues, but no investigators have thus far set out to investigate the combined diagnosed prevalence of JHS/EDS within a population. […] This work examined the epidemiology of EDS and JHS and found a combined diagnosed prevalence of 194.2 per 100000 (0.19%) or 1 in 500 people in Wales; hEDS or HSD within the 2017 classification. […] We found a steadily increasing rate of diagnosis over the past 27 years, as well as higher rates of diagnoses for other conditions and prescriptions within 12 months (before and after) of the recorded first diagnosis in most categories. This suggests that hEDS/HSD, when considered together, do not meet the definition of rare conditions and have widespread effects across multiple body systems.
  • #2 Hypermobility (joints) – Wikipedia
    https://en.wikipedia.org/wiki/Hypermobility_(joints)
    Hypermobile joints occur in about 10 to 25% of the population. […] Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. […] Generalized hypermobility is a common feature in all these hereditary connective tissue disorders and many features overlap, but often features are present that enable differentiating these disorders.
  • #3
    https://journals.lww.com/mgim/fulltext/2016/21010/benign_joint_hypermobility_syndrome.4.aspx
    Benign joint hypermobility syndrome (BJHS) is a common yet poorly recognized disorder of joint in children and adults. […] The incidence in school going children may be as high as 40%. Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] It also appears to vary with sex and race. […] Females are generally more mobile than males of the same age group. […] Mobility decreases with advancing age. […] There are noticeable racial differences in joint mobility among normal populations. […] People of Asian, Middle Eastern, and African descent have increased joint laxity as compared to Europeans and Americans. […] In a study done on Iranian army, recruits showed that joint hypermobility was seen in 29.4% which is relatively very high as compared to what the current data suggests. […] One study found that hypermobility occurred in 66% of school children presenting to rheumatologists with arthralgia of unknown etiology. […] BJHS is likely to be genetically heterogeneous, and candidate genes are under investigation.
  • #3 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    There is an urgent need to increase the awareness of JHS and spectrum of HDCTs. […] These are prevalent conditions that are frequently undiagnosed and that can cause significant health problems. […] If joint hypermobility syndrome and the other inherited connective diseases are missed on a physical examination the following problems may arise: Inappropriate and potentially harmful labeling or treatments may be applied on the basis of an erroneous diagnosis such as fibromyalgia, degenerative disc disease, hypochondriasis, or degenerative arthritis. […] While hypermobility may be generalized or extreme in a small number of joints, it is important for pain physicians to recognize when it is present. […] It is important to differentiate JHS from the Vascular Ehlers-Danlos Syndrome, for instance, to prevent life threatening vascular hemorrhages from arterial ruptures in the latter condition.
  • #3 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    The lack of long-lasting relief in any of these traditional treatments provides a grim prognosis for anyone living with the chronic disabling pain of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome. […] The common flaw in each of these traditional treatments is their inability to repair the weakened connective tissues causing the hypermobility. […] Prolotherapy offers great hope for those with symptoms from generalized hypermobility because it is designed to successfully treat the ligament and tissue laxity that accompanies JHS and EDS. […] Prolotherapy could also contribute to the treatment of hypermobility disorders by preventing the development of precocious osteoarthritis. […] The combination of extreme hypermobility and repeated injury is presumed to be what leads to the early osteoarthritis.
  • #3 Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management
    https://www.degruyter.com/document/doi/10.7556/jaoa.2006.106.9.531/html?lang=en
    Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. […] Hypermobility that is not associated with systemic disease occurs in 4% to 13% of the population. […] Among studies examining the prevalence of generalized hypermobility in patients referred to rheumatologists, one study found that hypermobility occurred in 66% of school children with arthralgia of unknown etiology. […] Benign joint hypermobility syndrome has a strong genetic component with an autosomal dominant pattern. […] The prognosis for patients with BJHS is generally good owing to the syndrome’s nonprogressive nature and decreased joint laxity and symptoms that occur with age. […] Given the many sequelae that may develop and the potential impact of BJHS on quality of life, some experts are questioning why BJHS is called a benign disorder; instead, they refer to the disorder as joint hypermobility syndrome. […] The potential complications of BJHS underscore the importance of making an early diagnosis and educating the patient.
  • #3 Joint Hypermobility Syndrome: A Narrative Review, American Journal of Internal Medicine, Science Publishing Group
    https://www.sciencepublishinggroup.com/article/10.11648/j.ajim.20231103.12
    Joint hypermobility syndrome (JHS) is a complex connective tissue disorder characterized by excessive joint mobility and chronic musculoskeletal pain. The condition extends beyond the joints and can affect various systems such as the skin, gastrointestinal tract, neurological system, and cardiovascular system, necessitating a multidisciplinary approach to optimize care. Notably, the prevalence of JHS is higher in young individuals, females, and those of Asian descent. […] Despite being a common condition, JHS is frequently underdiagnosed, resulting in persistent pain and disability. In order to diagnose JHS, it is necessary to rule out the presence of any consistent feature that indicates the existence of other connective tissue disorders that partially overlap with it, including Marfan and Ehlers-Danlos syndromes. A thorough clinical assessment, coupled with the application of the Brighton Criteria, can aid in making an accurate diagnosis. Management of JHS poses significant challenges and typically involves symptomatic treatment, including physiotherapy, rehabilitation, and pharmacological therapy. Additionally, a multidisciplinary approach, including collaboration with different specialists, is vital. Further research is needed to improve our understanding of JHS and develop interventions based on solid evidence. However, with comprehensive management strategies, individuals with JHS can achieve better pain control and improved function, enabling them to lead more fulfilling lives.
  • #3 Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
    https://www.mdpi.com/2218-273X/14/4/472
    The data indicate that individuals with EDS who experience back pain, joint pain, and joint laxity are more likely (67.1%) to receive a diagnosis of at least one rheumatological condition when they undergo a thorough serological and radiographic assessment for their musculoskeletal issues, alongside a physical examination. […] In recent years, a clinical case definition has emerged for fibromyalgia syndrome with hypermobility developing after a COVID-19 infection. The overlap between JHS and fibromyalgia is 80%, yet the explanation remains unknown. […] The Beighton scoring system stands as a widely employed assessment tool to gauge joint flexibility, commonly utilized in the evaluation of JHS. However, it is crucial to note that some individuals with JHS may not exhibit overt symptoms. […] This highlights the necessity for future research to focus on this approach to better understand the multifaceted nature of JHS, the challenges in its diagnosis, the significance of comprehensive studies, and the pivotal role of targeted therapies in managing its manifestations.
  • #4 Treatment of Joint Hypermobility Syndrome, Including Ehlers-Danlos Syndrome, with Hackett-Hemwall Prolotherapy – Journal of Prolotherapy
    https://journalofprolotherapy.com/treatment-of-joint-hypermobility-syndrome-including-ehlers-danlos-syndrome-with-hackett-hemwall-prolotherapy/
    The lack of long-lasting relief in any of these traditional treatments provides a grim prognosis for anyone living with the chronic disabling pain of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome. […] The common flaw in each of these traditional treatments is their inability to repair the weakened connective tissues causing the hypermobility. […] Prolotherapy offers great hope for those with symptoms from generalized hypermobility because it is designed to successfully treat the ligament and tissue laxity that accompanies JHS and EDS. […] Prolotherapy could also contribute to the treatment of hypermobility disorders by preventing the development of precocious osteoarthritis. […] The combination of extreme hypermobility and repeated injury is presumed to be what leads to the early osteoarthritis.
  • #4 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)
    https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet
    Hypermobility spectrum disorders include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. […] Joint hypermobility and HSDs are very common in children of school age. […] Up to 4 in 10 of young teenage girls and about 1 in 10 of young teenage boys have hyper-flexible joints. […] HSDs are more common in Asian-American children and least common in African-American children. […] HSDs can be a problem for young people and for adults. […] Having flexible joints (hypermobility) is commonly an advantage in sport and dance, and is seen in many successful sportspeople. […] However, increased flexibility and ability to stretch can not only lead to pain, loss of fitness, tiredness and poor self-esteem, it can also lead to injury.
  • #5 Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders | AAFP
    https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
    Generalized joint hypermobility, a diagnostic criterion for hypermobile EDS, is more common than hypermobile EDS/hypermobility spectrum disorders because patients with generalized joint hypermobility may be asymptomatic. When assessed in student population samples using 2017 criteria, 4% to 11% of children three to 19 years of age had generalized joint hypermobility. The percentage of people with generalized joint hypermobility who are eventually diagnosed with hypermobile EDS/hypermobility spectrum disorders is unknown. […] Hypermobile EDS is considered to be inherited in an autosomal dominant manner with incomplete penetrance. The pathogenesis of hypermobile EDS and hypermobility spectrum disorders is still being unraveled but involves muscle and tendon laxity, reduced proprioception, significantly disordered connective tissue structure, and alterations in gene expression.

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uogólniona hipermobilność stawów propriocepcja skala Beightona geny kolagenu proloterapia tkanka łączna tętniak tętnicy szyjnej łagodny zespół hipermobilności stawów zespół hipermobilności stawów przewlekły ból rozwarstwienie tętnicy szyjnej naczyniowy zespół Ehlersa-Danlosa terapia farmakologiczna kryteria Brighton hipermobilny zespół Ehlersa-Danlosa reumatoidalne zapalenie stawów edukacja pacjenta nadmierna ruchomość stawów rehabilitacja rozwarstwienie tętnicy kręgowej autosomalny dominujący wzorzec dziedziczenia tętniak mózgu zespół Ehlersa-Danlosa zespół Marfana choroba zwyrodnieniowa stawów