Posted by sharon kara on August 06, 1998 at 15:15:45:
In Reply to: This is the Hypermobility Syndrome posted by Stefan Back on March 17, 1998 at 13:26:40:
: 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.