Posted by LAURIE PREWITT on August 19, 1998 at 07:52:45:
In Reply to: Re: This is the Hypermobility Syndrome posted by sharon kara on August 06, 1998 at 15:15:45:
: : HYPERMOBILITY SYNDROME
: :
: : by Rodney Grahame • Taken from Rheumatology by Klippel and Dieppe
: :
: : CLINICAL FEATURES
: :
: : • Range of traumatic and overuse lesions (traction injuries, synovitis,
: : rotator cuff lesions, etc.).
: :
: : • Hyperextensible, thin, soft skin.
: :
: : • Joint instability effects.
: :
: : • Stress fractures.
: :
: : • Some patients develop a chronic arthritis, either low-gradeinflammatory
: : synovitis or osteoarthritis.
: :
: :
: : Generalized ligamentous laxity, the prerequisite of joint hypermobility, is
: : seen in a substantial proportion (perhaps 10%) of healthy individuals (varying
: : according to methodology and tothe age, sex and ethnic origin of the
: : population studied), the overwhelming majority of whom probably suffer no ill
: : effects.
: :
: : Hypermobility syndrome (HMS), as seen in clinical practice, is a common
: : finding. A diagnostic survey of 9275 new referrals to one large general
: : rheumatology clinic revealed that HMS was more frequently diagnosed than
: : ankylosing spondylitis, crystal synovitis or psoriatic arthritis, comprising
: : 3.25% of all female and 0.63% of all male referrals.
: :
: : These patients present with a wide variety of readily identifiable traumatic
: : and overuse lesions, such as traction injuries at tendon or ligament
: : insertions, joint or tendon sheath synovitis, chondromalacia
: : patellae, rotator cuff lesions, or back pain due to soft tissue injury or disc
: : prolapse.
: :
: : Others suffer the effects of joint instability, such as flat feet, recurrent
: : dislocation or subluxation notably of the shoulder, patella,
: : metacarpophalangeal joints (MCP’s) or temporomandibular joints. Others develop
: : a chronic arthritis either a low-grade inflammatory synovitis of traumatic
: : origin or osteoarthritis, which is held by many authorities to be a direct
: : complication of HMS.
: :
: : What sets the HMS patient apart from others at the rheumatology clinic is the
: : profusion and spectrum of common lesions occuring in the same individual and
: : often spanning his (or more commonly her) whole lifetime.
: :
: : More difficult to explain in such patients is the frequently encountered
: : arthralgia or myalgia in the absence of any demonstrable clinical abnormality.
: : Clinicians unfamiliar with the syndrome, or those who fail to observe the
: : hypermobility, are tempted to discount the symptoms or to ascribe them to
: : neurosis.
: :
: : The hapless patient, frustrated by this lack of understanding and help from
: : doctors, and often unable to lead a normal life, resorts to the dubious
: : benefits of alternative medicine. Not surprisingly, features of depression are
: : commonplace.
: :
: : Organs and tissues, which rely for their structural integrity on the tensile
: : strength of normal collagen may also become disordered in hypermobile
: : subjects. The skin may be thin, soft, hyperextensible and develop striae. But
: : this is also typical for Ehlers-Danlos (EDS) and Marfan syndromes and
: : osteogenesis imperfecta (OI), with which HMS shares a number of
: : common features.
: :
: : An association between mitral valve prolapse (MVP) and the HMS has been
: : reported in controlled studies. Weakness of the musculotendinous supporting
: : structures of the anterior abdominal wall and pelvic floor no
: : doubt explains the reported increased findings of abdominalhernia and of both
: : rectal and uterine prolapse in HMS subjects. Bone fragility may also be
: : present, resulting in an increased liability to fracture. Partes
: : interarticulares of the lumbar spine are particularly common, the latter
: : constituting additional potential sources of low back pain in HMS.
: :
: : Differential diagnosis
: :
: : The recognition of joint hypermobility rests on the ability of the person to
: : perform a series of passive joint maneuvers. The system that has stood the
: : test of time and that has gained virtual universal acceptance is the 9-point
: : scale of Beighton 10. The diagnosis is commonly missed for the simple reason
: : that clinicians, trained to look for loss of range of joint and spinal motion,
: : fail to recognize an increase in range.
: :
: : Hypermobility syndrome has to be distinguished from the less benign heritable
: : connective tissue disorders such as Marfan and Ehlers-Danlos syndromes (EDS)
: : and Osteogenesis Imperfecta (OI), with which it shares a number of common
: : features. This is not always easy. However, echocardiography, ophthalmic
: : examination and a detailed genetic work-up are invaluable in helping to define
: : the phenotype in individual families. A panel of 21 expert geneticists from 10
: : countries has recently drawn up an agreed comprehensive classification of the
: : many syndromes, and variants of syndromes that have been described.
: : Unfortunately, the HMS patients described above as so frequently displaying
: : overlap features (marfanoid habitus, MVP, skin hyperextensibility and joint
: : laxity) do not fit comfortably into the Berlin nosology.
: :
: : Neither of the two nearest designations, EDS III (hypermobile type) nor
: : familial articular hypermobility syndrome (FAHS) are appropriate for this
: : group. The skin and joint changes seen in EDS III are more florid; whilst, in
: : FAHS, skin involvement and MVP are reportedly absent.