hyper mobility spectrum disorders - not on exam Flashcards
what is hyper mobility and what needs to be taken into consideration?
-joints moving beyond the normal limits taking into consideration the age, gender and ethnic background of the person
what are examples of specific disorders related to hyper mobility spectrum disorders?
-ehlers danlos syndrome
-marfans
-osteogenesis imperfecta
what are the symptoms of ehlers danlos syndrome EDS?
-joint hypermobility
-stretchy skin
-fragile skin that breaks or bruises easily
what is the name of the most common type of ehlers danlos syndrome?
hypermobile EDS
other than hyper mobile EDS, what are other examples of EDS?
-classical skin
-vascular
-hyphoscoliotic
what is vascular EDS?
a more severe type of EDS
-affects the walls of major blood vessels & organs
what is EDS characterised by?
a defect in collagen production which affects the bodies connective tissue eg skin, joints and blood vessels
what is the cause of EDS?
its usually inherited
describe marfans
a disorder that involves a mutation in a gene that affects the protein fibrillin which is essential for connective tissue integrity
what are examples of symptoms associated with marfans?
-tall, slender, square shoulders
-aortic enlargement
-eye problems (increased risk of cataracts)
-crowded teeth
-arachnodactily (long fingers) and flat feet
-lumbar hyper lordosis
describe osteogenesis imperfecta
-also called ‘brittle bone disease’
-genetic disorder that affects collagen production which leads to fragile bone
-there is an increased fracture rusk due to osteoporosis
-there are different types - type I to IV
what are musculoskeletal features of HSDs and HEDs?
-chronic/widespread pain due to mechanical overload
-recurrent STIS
-joint instability
-dislocations
-crepitus
-reduced proprioceptive sense
-hyperalgesia
-risk of developing early onset arthritis in shoulders and knees esp
other than MSK, what other features can be seen in HSD or HEDs?
-GI eg reflux, abdominal pain etc
-incontinence
-skin problems eg skin fragility and bruising
-dysautonomia - eg reduced BP, bradycardia, fatigue etc
-headaches
-internal organ problems
what are examples of questions to ask patients regarding joint stability?
-can you now or could you ever place your hands flat on the floor w/o bending knees?
-as a child did you amuse your friends by controlling your body into strange shapes or could you do the splits?
-do you consider yourself double jointed?
-as a child or teen, did your kneecap or shoulder dislocate on more than 1 occasion
what are examples of other important subjective features in HSD or HEDs?
-fatigue levels
-PMH eg skin, GI , eyes etc
-FH of hypermobilioty disorders
-other - important to screen biopsychosocial factors eg anxiety, depression, social engagement etc
what is the beighton scoring system?
a screening tool for hyper mobility (not recommended to use in isolation)
-if greater than 6 for pre-pubertal children and adolescents etc
