Importance and significance of studying people with joint hypermobility.
To have Hypermobility (HM) without
symptoms is a good quality, but if there are symptoms then we
are dealing with a disease, called Joint Hypermobility Syndrome (JHS). The real incidence of HM is difficult to establish, since it varies
with age, sex and race, being higher in children, women and oriental races. In
general it is estimated that, in occidental countries, it affects between 10 and
15% of the population (using the Beighton score).
JHS is extremely frequent in Chile and in other Latin countries, but
usually it is not diagnosed. We agree with Grahame, who is the maximal
authority in the subject, that JHS is probably the most frequent cause of pain
in the rheumatological practice. The Beighton score is helpful to give an idea
about joint hypermobility, but it is insufficient for the diagnosis of JHS. The
Brighton criteria, validated by Grahame (1998), have come to facilitate this diagnosis.
Recently using this criterion systematically, it has been found that JHS
affects 45% of patients in a Rheumatological Clinic in London and even at a
higher percentage in Santiago, Chile. Our unusual high frequency of 80% is
explained by the high frequency of JHS in the Chilean population (39%), and the
fact that our clinic is a referral center for these patients.
It is necessary to be able to differentiate the different types of
Hereditary Diseases of the Collagen Fiber, since the possible complications
vary from one disease to another. It is well known that in Marfan syndrome
there can be dilation or rupture of the aortic artery, spontaneous pneumothorax
and osteoporosis. The spontaneous pneumothorax can also be seen in the
Marfanoid type of JHS and in the Vascular Ehlers-Danlos (VEDS). In Osteogenesis
Imperfecta the principal problem are multiples fractures, since childhood. We rheumatologists are more interested in
the Ehlers-Danlos syndromes, since there are more frequent in our clinics than
what it is usually thought. If in Chile JHS exists in 39% of the population and
if JHS musculo-skeletal pain is the principal cause of pain in rheumatology,
then it is probable that in our clinics at least 50% of the patients have JHS
alone or associated to an arthritis. In 15% of our 1,200 JHS patients, an
associated arthritis was found. JHS is for most authors the same as the
formerly called Ehlers-Danlos type III. For some time it was called Benign JHS,
in relation to the VEDS, that has worse prognosis. Really JHS is not benign,
since it can cause poor quality of life, important complications and even it
can be disabling. Besides musculo-skeletal pain it is important to study the
BMD in all patients with JHS, since we have found that 19% of males and females,
younger than 30 years of age have Osteoporosis. In this same age group we found
Dysautonomia (chronic fatigue, dizziness and at times syncope) in 40% of males
and 64% of females. It is important to note that Dysautonomia, that can cause
very poor quality of life, responds very well to treatment.
Frequently we see JHS patients with arthralgias who have had the wrong
diagnosis of SLE, RA or Psoriatic Arthritis without psoriasis, because of
borderline laboratory results. In
patients with back pain, enthesitis, costocondritis and positive Brighton
criteria, the differential diagnosis between JHS and Pelvispondyloarthropaties
can be difficult. It is necessary to remember that Xerostomia and
Xerophthalmia, are not only seen in Sjögren, but also in JHS, due to the
alteration of the autonomous nervous system, that usually exists in these
patients. Acrocianosis, that is frequent in JHS, due to peripheral vascular
alteration, is usually confused with Raynaud´s phenomenon, which existed only
in 2% of our patients. There are many patients diagnosed as Fibromyalgia, that
really are JHS, since both diseases can have arthralgias, myalgias, painful
points or enthesitis, back pain, irritable colon, gastric reflux, chronic
fatigue and normal laboratory tests.
We have dedicated a special article to Vascular EDS (VEDS), in this
number of the journal, since it is imperative to have the diagnosis before a
serious complication arises, which could be fatal. Knowing the diagnosis in
advance can save the patients life. VEDS is less frequent, but more serious
than JHS. Since it also has Autosomal Dominant Inheritance, this diagnosis
should be suspected if there is a family member that has VEDS. It is important
to know that the serious arterial complications, at times fatal, happen 25% of
them before age 20 and 80% of them before the age of 40. It is also important
to remember that VEDS patients do not have significant joint hypermobility and
if a person has marked joint hypermobility most likely does not have VEDS.
There is a tremendous lack of knowledge about the importance of Joint
Hypermobility. For most physicians and general public, it is a curiosity or a
kind of “party tricks” or “a circus
act” and not a potentially serious medical problem. Already in the year 2001,
Grahame wrote an editorial entitled ”It is time to take joint hypermobility
seriously” and that same year in the study of the rheumatologists in England,
he noted that the great majority of them did not know this syndrome. The
Arthritis & Rheumatism journal has published only one article on Joint
Hypermobility, situation that indicates that JHS is also underestimated in USA.
The reason for this international lack of interest is multiple: patients
are diagnosed as having local problems as tendinitis, bursitis, subluxations,
without realizing that they are suffering a more complex condition called JHS.
If it is noted that the patient has joint hypermobility, no attention is given
to its significance, or to possible complications. The very high frequency of
joint hypermobility, the lack of knowledge that it is related to damage of
multiple organs, besides that the clinical picture is not dramatic, that there
are no inflammatory signs and that there are no abnormal laboratory tests,
neither typical X-ray changes and that there is a sensation that the treatment
is ineffective, makes physicians not interested in diagnosing these
conditions. Rheumatologists as well as
medical students have had no training in how to examine the hypermobility
patient and the majority of rheumatologists do not know or they do not use the
diagnostic criteria that permit the recognition of these patients. The fact
that we have printed sheets with the Brighton criteria for JHS and the
Villefranche criteria for the diagnosis of VEDS and that we use them to see if
patients fulfill these criteria, has facilitated us the diagnosis of this
pathology.
We believe that an increase in medical and public
knowledge of these diseases will facilitate diagnosis, will give better quality
of life to the patients, and will improve prevention and early treatment of
Osteoporosis, Osteoarthritis, Dysautonomia and severe complications such as
ruptures of arteries and organs.
Jaime F. Bravo, MD
Departments of Rheumatology
San Juan de Dios Hospital and Clinica Arauco Salud..
Santiago. Chile
Revista chilena de Reumatologia 2008;24(1):4-5.