Mr James Welch BSc (Hons) PGDip

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1 Mr James Welch BSc (Hons) PGDip Advanced Specialist Podiatrist (MSK) CSH Surrey (NHS) Director Ablefeet

2

3 Mr James Welch BSc (Hons) PGDip Advanced Specialist Podiatrist (MSK) CSH Surrey (NHS) Director Ablefeet

4 Aims Typical podiatric referral and initial assessment Hypermobility & its issues Conditions (Tissue stress briefly don t get scared by science, it s fun)

5 A typical referral He s struggling to walk We ve been told he s hypermobile, but we don t know if it s a problem She needs orthotics to control her hypermobility My daughter seems to fall over all of the time, much more than any of her classmates I think my son s got growing pains His knee keeps popping out She s got such flat feet which you need to correct

6 Hypermobility what does it mean? An excessive range of motion in any given joint over and above what would be deemed a normal range of motion (Grahame, 2008; Simmonds & Kerr, 2007)..or is it? Difficulty comes when that patient is diagnosed with hypermobility, often the story ends here. Hakim & Grahame (2003) stated that the act of recognition becomes the goal in itself rather than the medium through which effective therapy can be provided Spotting hypermobility is one thing, being in a position to establish its clinical importance is quite another. How do you measure this?

7 Assessing Hypermobility Beighton Scale (1973): Passive dorsiflexion of the little finger of more than 90-1 point for each little finger Passive apposition of the thumbs to the flexor aspects of the forearms - 1 point for each thumb Hyperextension of the elbow of more than 10-1 point for each elbow Hyperextension of the knee of more than 10-1 point for each knee Forward flexion of the trunk, with knees straight, so that the palms of the hands rested easily on the floor.

8 but I have issues Simple scale to use & quick Only 1 lower limb marker.and for some reason, discounted an excess range of passive dorsiflexion of the ankle and eversion of the foot Only tracks a small number of joints, therefore some conditions may be missed Why 5/9?

9 5-part classification questionnaire Can you now (or could you ever) place your hands flat on the floor without bending your knees? Can you now (or could you ever) bend your thumb to touch your forearm? As a child did you amuse your friends by contorting your body into strange shapes or could you do the splits? As a child or teenager did your shoulder or kneecap dislocate on more than one occasion? Do you consider yourself double-jointed?

10 Lower Limb Assessment Score Ferrari et al (2005) Included movements of the joints occurring in several planes of motion rather than in just one direction. Approx. 15 minutes to complete Maximum 12 marks per limb 7/12 defined as hypermobile

11 Lower Limb Assessment Score Hip flexion Hip abduction Knee hyperextension Knee anterior drawer test Knee rotation Ankle joint dorsiflexion Ankle anterior drawer test Subtalar joint inversion Midtarsal joint inversion Midtarsal joint ab/adduction & dorsi/plantarflexion Metatarsophalangeal movement Excessive STJ pronation

12 Hereditable Disorders of Connective Tissue (HDCT) There are over 200 Hereditable Disorders of Connective Tissue, with 4 of the most common: Hypermobility Spectrum Disorder Ehlers-Danlos Syndrome Marfan Syndrome Osteogenesis Imperfecta

13 HDCT Common features All of these conditions have had some form of gene mutation. Hypermobility is generally the common feature to all of these conditions. Must determine whether this trait is a benign physiological variant or a manifestation of one of the HDCT (Englebert, 2003)

14 Connective Tissue Collagen Elastin Fibrillin Tenascin or Proteoglycans

15 Collagen Most abundant protein in mammals, making up a third of the body s protein Triple helix structure, known as the Madras helix. The three polypeptide chains (2 alpha 1 and 1 alpha 2) are twisted together into a left-handed coiled coil. Distinguished by the regular arrangement of amino acids in each of the three chains of these collagen subunits. Supposedly up to 28 types.

16 Collagen Type I Most abundant, found in skin, tendons, vascular tissue, organs and bones. Gram for gram it s stronger than steel (high tensile strength) potentially up to 90%) Type II Basis for articular cartilage & hyaline cartilage. It provides tensile strength and withstands compressive stress Type III A scleroprotein commonly found alongside Type I, found in gut, skin and blood vessels. Also main component of reticular fibres of bone, cartilage, tendon and bone marrow stroma

17 Elastin Highly elastic cross-linked protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting Component part of elastic fibres (as well as the elastic microfibril) Incredibly durable with t1/2 in the order of 70years, during which time it undergoes more than a billion cycles of stretching and relaxation (Li, 2002) Durability to heat

18 Fibrillin Extracellular matrix glycoprotein Direct tropoelastin deposition during elastic fibrillogenesis 3 forms discovered, but mainly Fibrillin 1 and 2 Major component of microfibrils which form a sheath surrounding elastin. End-to-end polymers of fibrillin

19 Tenascin Extracellular matrix glycoprotein 4 forms C, R, W, X Reduced levels or absence in Tenascin-X EDS Jones (2000), Hsia (2005)

20 Malfait et al (2006)

21

22 Hypermobility Spectrum Disorder Autosomal dominant pattern of inheritance Multi-systemic CTD causing systemic tissue laxity, due to collagen mutation Poorly diagnosed condition, approx 1 in 20 correctly diagnosed (Grahame, 2008) Accounts for 45% of routine general rheumatology referrals Higher prevalence in: Younger people Females Non-whites (predominantly African & Asian populations)

23 Expansion of the known phenotype during the 2 nd half of 20 th century (Adapted with permission, Grahame, 2013) (1967) Musculoskeletal Pain / Joint Instability Overlap with HDCT / Skin / Habitus Uterine / Rectal prolapse Chronic Pain Syndrome Anxiety / Phobias Dysautonomias GI dysmotility (2010) Progressive Disability

24 Brighton Criteria (1998)

25 Prevalence of Generalised Joint Laxity (Clinch et al, 2011) GJL in 6022 children (mean age 13.8 years) Beighton > 4/9 = 19.2% (27.5% girls, 10.6% boys) Beighton >6/9 = 4.2% (7% girls, 1.3% boys) Is a higher Beighton cut-off required (> 6/9) Are current diagnostic criteria appropriate?

26 Ehlers-Danlos Syndrome Heterogeneous group of inherited CTD Villefranche classification (1997) is now obsolete Malfait classification (2017) now used Based on the identification of genetic alterations affecting the synthesis and structure of predominantly Type I, III & V collagen 13 subtypes

27 EDS Subtypes & Genetic Criteria

28 Classic EDS (Type I) Non-traumatic / spontaneous onset atrophic scars Skin smooth / velvety & hyperelastic; Raised and thickened layers of skin (Molluscoid pseudotumours) Herniations of underlying fatty tissue Very fragile skin Severe bruising Delayed wound healing Joint dislocations or subluxations Muscle weakness or hypotonia Other tissues fragile (diaphragm, abdominal wall)

29 Vascular EDS (Type III) Thin translucent skin that bruises easily Characteristic facial features Protruding eyes Thin nose and lips Sunken cheeks Small chin Spontaneous dilation / rupture of arteries & organs Fragility of blood vessels, gut wall & uterus Shortened life expectancy

30 Hypermobility EDS (Type V) Similarities with Classic EDS Joint pain and fatigue more common An individual must fulfil each of the 3 domains. In the second domain they must fulfil at least 2 of the 3 descriptors (A, B and C) by achieving sufficient scores where relevant.

31 Diagnostic Criteria for heds Domain 1 Presence of generalized joint hypermobility (based on Beighton score or 5-part questionnaire) Domain 2 (A) skin or fascia signs &/or pelvic floor concerns &/or Marfanoid features (having at least 5 of all the features mentioned) (B) Family history (C) at least 1 of the following 3 presentations:

32 Diagnostic Criteria for heds (cont) MSK pain in 2 or more limbs recurring daily for at least 3/12, or Widespread pain for > 3/12, or Recurrent joint dislocations in the absence of trauma 3 or more atraumatic dislocations in the same joint, or atraumatic dislocations in 2 different joints occurring at different times, or medical confirmation of joint instability at 2 or more sites not related to trauma. Domain 3 Absence of any other underlying HDCT including other variants of EDS

33 Constituent Features - Domain 2 (A) Unusually soft or velvety skin Mild skin hyperextensibility Unexplained striae such as striae distensae or rubrae Bilateral piezogenic papules of the heel Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosiderotic scars as seen in classical EDS Recurrent or multiple abdominal hernia Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without predisposing medical condition

34 Constituent Features - Domain 2 (A) Marfanoid features Dental crowding and high or narrow palate Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria Arm span-to-height 1.05 AND/OR upper segment/lower segment ratio <0.89 Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides; (iii) hand/height ratio > 11% on both sides; (iv) foot/height ratio > 15% on both sides Aortic root dilatation with Z-score >+2 on echocardiograph

35 Marfan s Syndrome First described by Antoine-Bernard Marfan in 1896 Common problems include: Aortic aneurysm Dislocation of the ocular lens Dolichostenomelia (long-bone overgrowth) Ghent Nosology diagnostic criteria Arm span greater than height (1.05) Pectus excavatum/ carinatum Arachnodactyly (Steinbergs test / Walker Murdoch test) Pes planus severe medial displacement of the medial malleolus leading to arch collapse Pes cavus Don t always have joint hypermobility & occasionally contractures

36 Revised Ghent Nosology (2010)

37 Osteogenesis Imperfecta Mutations in the genes in the majority (85-90%) that encode Type I collagen (which applies to I-IV) Low bone mass Bone fragility due to osteopenia / osteoporosis Increased risk of fractures Blue sclera (highly suggestive, but not pathognomonic sign) Short stature (Type II-IV) Approx 1 in 10,000-15,000

38 Sillence Classification (Rauch, 2004)

39 Interactions (adapted from Hakim & Grahame, 2003)

40 Young s Modulus

41 Case Study Miss X 6 yo Full term born via vaginal delivery weighing 7lbs APGAR - 8 Not crawling at 12/12 Not cruising at 18/12 Only became independently mobile at 2.5 yo Difficulty using cutlery, holding a pen, doing buttons

42 Complains of pain in ankles, knees and hips Has dislocated left knee twice Mother has EDS Type III Dx Ehlers-Danlos Syndrome Type III

43 Treatment Intensive physiotherapy and hydrotherapy Orthotics (UCBL) Piedro boots (not always go-to treatment) Patient and parent education

44 Summary Make sure you take a thorough history There s more to remember than just the Beighton scale Is it a normal variant, or something else? and it s not just bendy joints.

45 Thank you @Ablefeet

46 Links

47 References Adib, N., Davies, K., Grahame, R., Woo, P., & Murray, K. J. (2005). Joint hypermobility syndrome in childhood. A not so benign multisystem disorder? Rheumatology, 44(6), Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998). Ehlers- Danlos syndromes: Revised nosology, Villefranche, American Journal of Medical Genetics, 77(1), doi: /(sici) ( )77:1<31::aid- AJMG8>3.0.CO;2-O Beighton, P., Solomon, L., & Soskolne, C. L. (1973). Articular mobility in an African population. Ann Rheum Dis, 32(5), Carter, C., & Wilkinson, J. (1964). PERSISTENT JOINT LAXITY AND CONGENITAL DISLOCATION OF THE HIP. Journal of Bone & Joint Surgery, British Volume, 46-B(1), Castori, M. (2012). Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations. ISRN Dermatology, 2012, doi: /2012/ Celletti, C., Castori, M., Morico, G., & Camerota, F. (2014). Joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: constructing a rehabilitative approach. International Journal of Clinical Rheumatology, 9(2), doi:

48 Clinch, J., Deere, K., Sayers, A., Palmer, S., Riddoch, C., Tobias, J., Clark, E., (2011). Epidemiology of Generalised Joint Laxity (Hypermobility) in Fourteen Year Old Children in the UK. Arthritis & Rheumatism, 63 (9), Dietz, H. C., Cutting, G. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M.,... et al. (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature, 352(6333), doi: /352337a0 Engelbert, R. H. H., Bank, R. A., Sakkers, R. J. B., Helders, P. J. M., Beemer, F. A., & Uiterwaal, C. S. P. (2003). Pediatric generalized joint hypermobility with and without musculoskeletal complaints: a localized or systemic disorder? Pediatrics, 111(3), e Evans, A. M., Rome, K., & Peet, L. (2012). The foot posture index, ankle lunge test, Beighton scale and the lower limb assessment score in healthy children: a reliability study. J Foot Ankle Res, 5(1), 1. doi: / Ferrari, J., Parslow, C., Lim, E., & Hayward, A. (2005). Joint hypermobility: The use of a new assessment tool to measure lower limb hypermobility. Clinical & experimental Rheumatology, 23(3), Gigante, A., Specchia, N., Rapali, S., Ventura, A., & de Palma, L. (1996). Fibrillogenesis in tendon healing: an experimental study. Boll Soc Ital Biol Sper, 72(7-8), Glorieux, F. H. (2008). Osteogenesis imperfecta. Best Practice & Research Clinical Rheumatology, 22(1), doi:

49 Grahame, R. (2008). Hypermobility: an important but often neglected area within rheumatology. Nature Clinical Practice Rheumatology, 4( (Electronic)), Grahame, R. (2013). Joint hypermobility: emerging disease or illness behaviour? Clinical Medicine, 13(Suppl 6), s50-s52. Grahame, R., Bird, H. A., Child, A., Dolan, A. L., Edwards-Fowler, A., Gurley- Green, S.,... British Soc Rheumatology, S. (2000). The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). JOURNAL OF RHEUMATOLOGY, 27(7), Grahame, R., & Hakim, A. J. (2006). Joint Hypermobility Syndrome is highly prevalent in general rheumatology clinics, its occurrence and clinical presentation being gender, age and race-related. Annals of the Rheumatic Diseases, 65, Hakim, A., & Grahame, R. (2003). Joint hypermobility. Best Practice & Research Clinical Rheumatology, 17(6), doi: Hsia, H. C., & Schwarzbauer, J. E. (2005). Meet the Tenascins: Multifunctional and Mysterious. Journal of Biological Chemistry, 280(29),

50 Jones, F. S., & Jones, P. L. (2000). The tenascin family of ECM glycoproteins: structure, function, and regulation during embryonic development and tissue remodeling. Dev Dyn, 218(2), doi: /(sici) (200006)218:2<235::aid-dvdy2>3.0.co;2-g Judge, D. P., & Dietz, H. C. (2005). Marfan's syndrome. The Lancet, 366(9501), Li, B., & Daggett, V. (2002). Molecular basis for the extensibility of elastin. Journal of Muscle Research and Cell Motility, 23(5-6), doi: Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B.,... De Paepe, A. M. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47(7), Malfait, F., Hakim, A. J., De Paepe, A., & Grahame, R. (2006). The genetic basis of the joint hypermobility syndromes. Rheumatology, 45(5), Pyeritz, R. E. (2000). The Marfan syndrome. Annual Review of Medicine, 51,

51 Rauch, F., & Glorieux, F. H. (2004). Osteogenesis imperfecta. The Lancet, 363(9418), Simmonds, J. V., & Keer, R. J. (2007). Hypermobility and the hypermobility syndrome. Man Ther, 12(4), doi: /j.math Simpson, M. R. (2006). Benign joint hypermobility syndrome: evaluation, diagnosis, and management. J Am Osteopath Assoc, 106(9), Tinkle, B. T., Bird Ha Fau - Grahame, R., Grahame R Fau - Lavallee, M., Lavallee M Fau - Levy, H. P., Levy Hp Fau - Sillence, D., & Sillence, D. (2009). The lack of clinical distinction between the hypermobility type of Ehlers- Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). American Journal of Medical Genetics, 149A( (Electronic)), van der Giessen, L. J., Liekens, D., Rutgers, K. J., Hartman, A., Mulder, P. G., & Oranje, A. P. (2001). Validation of beighton score and prevalence of connective tissue signs in 773 Dutch children. The Journal of Rheumatology, 28(12),

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