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This is the Hypermobility Syndrome

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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.

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