DIAGNOSTIC CRITERIA FOR JOINT
HYPERMOBILITY SYNDROME (JHS)
Recently diagnosing the JHS has been eased with the
newly revised Diagnostic Criteria. It
has been detected that the Beighton Score, used for 30 years, was insufficient,
since it only considered a few joints and not the complications caused by
tissue fragility. The Brighton Criteria
includes and extends the old Beighton Score, which now makes the Joint
Hypermobility Syndrome (JHS) diagnosis much more precise. This is due to the fact that many patients
with this syndrome have only a few hypermobile joints or have some joints not
comprised by this method, thus it became necessary to widen the criteria. Besides having hypermobile joints, JHS can
present several symptoms which compromise other tissues, such as skin
alterations (soft, thin, lax, translucent that shows the veins, bruises,
striae, poor wound healing), hernias, uterine and/or rectal prolapse, varicose
veins, mitral valve prolapse, myopia, etc.
This group also includes Marfanoide habitus (tall, thin, with long arms
and fingers). In patients with JHS there is not only fragility of the tendons
but also alterations of other tissues and organs due to the genetic alteration
of the collagen fiber. It is necessary to be very well acquainted with these
criteria for the diagnosis of these conditions. For a precise diagnosis it is necessary to, first, determine the
Beighton Score followed by the Brighton Criteria. It is very unfortunate that
these two names are so similar, reason for which they are usually confused.
Other Criteria, such as the Vascular Ehlers-Danlos
(EDS-IV) and Marfan Syndrome, are included for the diagnosis of these
Hereditary Diseases of Connective Tissue (HDCT).
Beighton Score
Helps to determine the degree of joint hypermobility. Currently it is used as part of the Brighton Criteria. For a positive Beighton Score, 4 or more points out of nine are required (i.e. two elbows and two hypermobile knees):
1. More than 10º hyperextension of the elbows
2. Passively touch the forearm with the thumb, while flexing the wrist.
3. Passive extension of the fingers or a 90º or more extension of the fifth finger (Gorling’s sign). This is used as a “Screen Test”.
4. Knees hyperextension greater than or equal to 10º (genu-recurvatum)
5. Touching the floor with the palms of the hands when reaching down without bending the knees. This is possible as a result of the hypermobility of the hips, and not of the spine as it is commonly believed
Reference:
Beighton PH, Solomon L, Soskolone CL. Articular mobility in an African population. Am. Rheum. Dis.1973; 32 : 413-18.
Brighton
Criteria for the Diagnosis of JHS
Major Criteria
· A Beighton score of 4/9 or greater (either currently or historically)
· Arthralgia for longer than 3 months in 4 or more joints
Minor Criteria
· A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)
· Arthralgia (> 3 months) in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.
· Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.
· Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).
· Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactily [positive Steinberg/wrist signs]).
· Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring.
· Eye signs: drooping eyelids or myopia or antimongoloid slant.
· Varicose veins or hernia or uterine/rectal prolapse.
The Joint Hypermobility Syndrome (JHS) is diagnosed in the presence two major criteria, or one major and two minor criteria, or four minor criteria. Two minor criteria will suffice where there is an unequivocally affected first-degree relative.
JHS is excluded by presence of Marfan or Ehlers-Danlos syndromes (other than the EDS Hypermobility type (formerly EDS III) as defined by the Ghent 1986 and the Villefranche 1998 criteria respectively).
Criteria Major 1 and Minor 1 are mutually exclusive as are Major 2 and Minor 2.
Note: It is necessary for Rheumatologists and Traumatologists to be well acquainted with these criteria and to use them routinely, when examining their patients. I suggest keeping a copy of this document at hand, as well as the criteria for other HDCT described below, since this is the only way to make a correct diagnosis.
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a) Typical
JHS facial appearance: ·
Blue sclera, especially seen in females. ·
Atypical ears: prominent “winged”, small, round,
lobeless, lobe attached to face, ears
with different shapes: kidney shape, “Dumbo ears”, “Mr. Spock ears”, soft
ears, with bent helix. |
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·
Abnormal nose: with a lump in the union of the bone and
the cartilage, nasal septum deviation, soft nostrils or already operated nose. ·
Some patients may have a prominent chin (triangular
face). Note: This facial appearance was first described
by Jaime F. Bravo, MD in Reumatologia
2004;20(1):24-30 |
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b) Marfanoid
habitus, in both sexes, was seen in 14% of our patients and reported
in 30% in Grahame series. They usually have arachnodactily and long and narrow
feet (big shoe sizes). They may have mild pectum excavatum and prominent
lower ribs. |
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c) Hyperflexion
of more than 90° of the metacarpo-phalangeal joints or wrists or marked
hyperextension of the fingers, when patients hold their head with their
hand, during the interview. |
References:
Grahame R, Bird HA, Child A et al. The British Society for Rheumatology Special Interest Group on Heritable Disorders of Connective Tissue criteria for the benign joint hypermobility syndrome. The revised (Brighton 1998) criteria for the diagnosis of BJHS. J Rheumatol 2000; 27: 1777-79.
Beighton P, DePaepe A, Danks D, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin 1986. Am J Med Genet 1988;29:581-94.
Beighton P, DePaepe A, Steinmann B, Tsipouras P and Wenstrup RJ. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1977. Am J Med Gen 1998; 77: 31-37
Bravo, J F. Síndrome de Hipermovilidad Articular. Como diferenciarlo de las otras
Alteraciones Hereditarias de la Fibra
Colágena. Reumatologia
2004;20(1):24-30
Diagnostic Criteria for Vascular Ehlers-Danlos Syndrome
(EDS- IV)
Major
criteria
- Thin, translucent skin (especially noticeable on the chest/abdomen)
- Arterial rupture, Intestinal rupture, Uterine rupture during pregnancy
- Easy bruising (spontaneous or with minimal trauma)
- Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
The presence of one or more minor criteria
contribute to the diagnosis of the vascular type of EDS, but are not sufficient
to establish the diagnosis, biochemical testing is strongly recommended to
confirm the diagnosis.
Minor criteria:
- Acrogeria (an aged appearance to the extremities, particularly the hands)
- Hypermobility of small joints
- Tendon/muscle rupture
- Talipes equinovarus (clubfoot)
- Early-onset varicose veins
- Arteriovenous carotid-cavernous sinus fistula
- Pneumothorax/pneumohemothorax
- Gingival recession
-
Family history
of the vascular type of EDS
Generally these patients are not very mobile , except for only hypermobile fingers.
Reference:
Beighton P, DePaepe A, Steinmann B, Tsipouras P and Wenstrup RJ. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1977. Am J Med Gen 1998; 77: 31-37
Diagnostic Criteria for
Marfan Syndrome
This
criteria is based on clinical findings in the various organ systems, and in the
nature of the family history and relationships. A "major" criterion
is one that carries high diagnostic specificity, because it is relatively
infrequent in other conditions and in the general population. A nuance in this
revision is the conversion of a number of minor criteria in the skeletal system
into a major criterion.
There is an important distinction between a major criterion being present in a system, and the system "being involved". The latter, while important in the diagnostic decision matrix, is less important than having an evident major criterion.
Photo taken from the literature
Skeletal System
Major criterion. Presence of at least 4 of the following manifestations.
- pectus carinatum
- pectus excavatum requiring surgery
- reduced upper to lower segment ratio or arm span to height ratio greater than 1.05
- wrist and thumb signs
- scoliosis of greater than 20° or spondylolisthesis
- reduced extension at the elbows (< 170°)
- medial displacement of the medial malleolus causing pes planus
-
protrusio acetabulae of any degree (ascertained on
radiographs)
Minor criteria.
- pectus excavatum of moderate severity
- joint hypermobility
- highly arched palate with crowding of teeth
-
facial appearance (dolichocephaly, malar hypoplasia,
enophthalmos, retrognathia, down-Slanting palpebral fissures)
For the skeletal system to be considered involved, at least 2 of the components comprising the major criterion or one component comprising the major criterion plus 2 of the minor criteria must be present.
Ocular
System
Major criterion.
-
ectopia
lentis
Minor criteria.
- abnormally flat cornea (as measured by keratometry)
- increased axial length of globe (as measured by ultrasound)
-
hypoplastic iris or hypoplastic ciliary muscle causing
decreased miosis
Cardiovascular
System
Major criteria.
- dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva; or
-
dissection of the ascending aorta
Minor criteria.
- mitral valve prolapse with or without mitral valve regurgitation;
- dilatation of the main pulmonary artery, in the absence of valvular or peripheral pulmonic stenosis or any other obvious cause, below the age of 40 years;
- calcification of the mitral annulus below the age of 40 years; or
- dilatation or dissection of the descending thoracic or abdominal aorta below the age of 50 years
-
For the cardiovascular system to be involved a major
criterion or only one of the minor criteria must be present.
Pulmonary
System
Major criteria.
-
none
Minor criteria.
- spontaneous pneumothorax [Hall et al., 1984], or
-
apical blebs (ascertained by chest radiography)
Skin
and Integument
Major criterion.
-
none
Minor criteria.
- striae atrophicae (stretch marks) not associated with marked weight changes, pregnancy or repetitive stress, or
-
recurrent or incisional herniae
For the skin and integument to be involved one of the minor criteria must be present.
Dura
Major criterion
-
lumbosacral dural ectasia by CT or MRI
Minor criteria
-
None
For the dura to be involved the major criterion must be present.
Family/Genetic
History
Major criteria.
- having a parent, child or sib who meets these diagnostic criteria independently;
- presence of a mutation in FBN1 known to cause the Marfan syndrome; or
-
presence of a haplotype around FBN1, inherited by
descent, known to be associated with unequivocally diagnosed Marfan syndrome in
the family
Minor criteria.
-
None
For
the family/genetic history to be contributory, one of the major criteria must
be present.
Requirements
of the Diagnosis of the Marfan Syndrome
For the index case:
- If the family/genetic history is not contributory, major criteria in at least 2 different organ systems and involvement of a third organ system
-
If a mutation known to cause Marfan syndrome in others
is detected, one major criterion in an organ system and involvement of a second
organ system
For a relative of an index case:
- presence of a major criterion in the family history and one major criterion in an organ system and involvement of a second organ system
Reference:
DePaepe A, Devereux RB, Dietz H, et al. Revised diagnostic criteria for the Marfan Syndrome. Am J Med Genet 1996, 62: 417-426.
Jaime F Bravo MD
Rheumatology-Osteoporosis
Revised: November 22nd , 2004