When to suspect the diagnosis of Ehlers-Danlos type III, also called
Joint Hypermobility Syndrome (JHS).
(In language for patients)
·
History of recurrent
musculo-skeletal problems, such as: tendinitis
(tennis elbow, trigger finger, Aquiles tendinitis,
etc.)¸bursitis (shoulder bursitis, trocantheric bursitis (hip) or recurrent
sport injuries (ruptured tendons, ruptured ligaments or ruptured muscles).
Frequent ankle sprains. “Growing pains” in children.
·
Joint pain (arthralgias), without inflammatory signs (redness, heat) for more than
3 months, without apparent cause. There are no inflamed joint is JHS (synovitis). JHS is the most frequent cause of
musculo-skeletal pain in any rheumatological clinic.
·
Frequent cracking noises of
the joints.
·
Soft
skin (like velvet), lax, pale, transparent (permits
to see the veins) with poor cicatrisation, at times queloides (bulging scars) or
thins scars, like paper (papiraceous scars), which is seen in scars from
vaccines. Telangectasias (red lilaceous small veins). Livido
reticularis (reddish reticular net). Striae without
an apparent cause, in young people and specially in
the lumbar area. “Droopy” (“tired”) eyes. At times dark skin on the dorsum of the
elbows and interphalangeal joints (“dirty elbows”).
Brown moles, the size of lentil peas (called lenticular moles) than can appear
anywhere in the body, specially arms and face. Prominent veins on the dorsum of
the hands. Skin alterations in JHS are frequent (94%). The skin characteristics
can be so typical (soft, supple hand), that the diagnosis of JHS can be
suspected just with a handshake.
·
Capillary fragility: recurrent hematomas, with only a slight touch or without cause, a time looking like
battered child or familiar battering. In children it can be confused with von
Willebrand disease (vWD), since in both cases the
coagulation studies are normal, except for the bleeding time,
that is prolonged in both. The difference lies in that vWD has positive Factor VIII and JHS does not. Nosebleeds
or gingival bleeding can be seen.
·
Hypermobility of one or more joints, with symptoms of pain,
tendinitis, subluxations, etc. Patients may be able to extend the fingers
backward, touch the forearm within the thumb, hypermobility of the wrist and
hyperextension of the elbows. Knees may go backwards (genu
recurvatum). It is interesting to note that laxity may affect one or few joints
and the patient may not be aware that she has hypermobility. Furthermore,
someone can have no lax joints (Beighton score of 0/9) and still have JHS if she has
alteration of tissues (for this reason a better name is Ehlers-Danlos type
III), like varicose veins, hernias, myopia, etc., and in this way having a
positive Brighton
criteria, that is diagnostic of JHS.
Hypermobility, at times, can be
obvious just by looking at a person (affecting fingers, elbows, wrists, knees). The
person can touch the floor with the palm of the hands, or could do those years
before. As a child she could do “party tricks” with the fingers, or could
contorsionate her body or suck her big toe.
·
The patient can have one of
the following signs, due to hypermobility:
-
“Flying
bird hand sign”. Active extension of the fingers.
-
“Horizontal
thumb sign”. Active flexion of the thumb over the palm.
-
“Hand
holding the head sign”. As if tired.
New signs described by us:
-
“Elephant track sign”. The skin over the interphalangeal joint wrinkles in a circular form,
simulating the foot imprint left by the elephant when walking.
-
“The hand of the lax scribe sign”. These
patients hold the pencil with marked flexion of the fingers or they used 4
fingers instead of the usual 3. They also frequently turn a little the page
when writing.
-
“Square
shoulders sign”. Frequently in Marfanoid patients with SHA.
·
Articular subluxation (the joint gets out of the usual
position) this is usually seen in the base of the thumb, elbows, shoulders and
knees (subluxation of the knee cap) and the temporomandibular
joint, with bruxism and occasional locking of the mandible.
·
Back pain:
due to scoliosis (at times since early life), hiperlordosis
(deep lumbar area), due to lumbar disc problems or simply due
to laxity of the spinal ligaments.
·
Alteration of the soft tissues: hernias, umbilical or inguinal hernia,
herniated nucleous pulposus,
varicose veins in young people, hemorrhoids, varicocele
(varicose vein of the testicles), vaginal or rectal prolapse
(hanging tissues), Mitral valve prolapse, cysts of all types, including wrist
Ganglion and Baker´s cyst (back of knees), reflux,
constipation (even megacolon), irritable bowel
syndrome, myopia and strabismus (cross-eyes).
·
Spontaneous rupture of the lungs (spontaneous pneumothorax). This frightening
complication is more frequently seen in Marfan syndrome, but also can be seen
in JHS and in the Vascular Ehlers-Danlos. It is more frequent in males. The
lung tissue may rupture with minimal or no trauma. The patient experiences
sudden chest pain and severe difficulty breathing and requires emergency
treatment, but is not fatal.
·
Neurological and psychological problems. It is known that depression; anxiety, panic
crisis and phobias can be inherited together with JHS, as described by Bulbena.
Patients can have nervousness, headaches, migraines, and poor memory, lack of
concentration and lack of energy. At times cramps, nervous legs and poor
response to inyectable analgesics, like by the dentist.
·
Marfanoid habitus (MH). Tall, thin adolescents with long
extremities, long fingers and big feet. At times with flat, sunken or prominent
chest and /or prominent ribs (lower ribs are prominent in anterior chest).
Young girls have the figure of models, because of slender bodies and long neck,
square shoulders and long fingers. MH is a minor sign of the
·
Blue
sclerae. Normal sclerae (the
white of the eye) is white like marble, but in JHS, especially in females, it
is slightly blue. The reason being that because of lack of collagen, the
membrane (sclerae) is transparent to the bluish color of the veins. Blue
sclerae is seen in about 90% of JHS females, but is rare in males. Blue sclerae
is normal in children up to 2 years of age.
·
Typical
JHS facies (described by us in 2006). Is characterized by (other
link):
-
Triangular
face (pointed chin).
-
Blue sclerae.
-
Atypical
ears: Prominent (“Dumbo”).
Pointed ears (“Mr. Spock” ears).
Kidney shape
(prominent middle part).
Question
mark ears.
Soft
cartilage.
Small,
round ears.
Flat superior border of
the ears.
Lobule attached to
the face.
Absence of the ear lobule.
Operated
ears.
-
Atypical
nose: Asymmetry (deviated
nasal septum).
Bony
nodule at the union of the bone and cartilage.
Soft
tip of the nose (soft cartilage).
Operated
nose.
-
“Droopy”
eyelids.
-
Antimongolic slant of the eyes (opposite to the Chinese
eyes).
In women the
blue sclerae are useful and in men looking at the ears is more useful, since
they seldom have blue sclerae, but frequently they have atypical ears. Both
have triangular face, a feature that is helpful in suspecting the diagnosis. With experience, it is very easy to
detect the “typical JHS facies”, as easy as to
recognize a person with Down syndrome.
·
Alteration of the involuntary nervous system (simpatico-vagal)
producing:
A.- Dysautonomia (Dys). A very frequent
yet usually undiagnosed problem that we see and treat daily, with good results.
In our study
of 1226 JHS patients, Dys was seen, in patients younger than 30 years, in
72% of females and 40% of males. This condition is seen frequently in young
females, usually adolescents, presenting with chronic fatigue, sleepyness, with no energy to attend social events. Usually
they are labeled as lazy, depressed or unsociable, because they have no energy
to alternate with other people. Frequently they have cold intolerance and low
blood pressure (unfortunately most physicians do not know that low blood
pressure is not normal).
Characteristics of Dys:
- Chronic
fatigue and somnolence. It appears when standing for too long or when
walking slowly. Also when stopping or finishing a job and starting to relax.
More than tiredness, it is a lack of energy, like “running out of batteries”.
It is interesting to note that this fatigue, somnolence and lack of energy,
does not happen when the person is working or playing a sport, but after
finishing it or at midday or evenings, when relaxing. Many patient tells us,
that they arrive home just ready to go to bed. Usually Dys is mistaken as
chronic fatigue due to anemia or other chronic diseases, hypoglycemia (low
sugar), hypothyroidism or depression.
-
Low blood pressure. This is many times unknown to
the patient. At times, instead of low blood pressure, Dys manifest itself with
tachycardia (this is called POTS). The body tries to compensate the decrease of
oxygen to the brain with tachycardia (rapid pulse). As time goes by, the blood
pressure starts to increase and in older patients Dys may happen even if they
are known to have hypertension. In these people the problem is that all of a
sudden they have a drop in blood pressure and they get Dys symptoms.
-
Dizziness.
The patient gets dizzy when standing up suddenly or getting out of bed in a
hurry. True syncope is rare, but is frequent that these patients have
pre-syncopal episodes.
-
Cold intolerance. This symptom is usually quite pronounced. Even though these patients
usually prefer warmer weather, the heat occasionally causes them to suffocate,
what we call “broken thermostat”.
B.- Sweating especially of the hands.
These patients usually complain of cold hands and feet and that if they have a
nap without covering themselves with a blanket, they get a cold.
C.- Acrocianosis (red-lilaceous color of
the hands). This phenomenon happens not only with cold weather, but also with
dependency and with inactivity of the hands (is due to poor circulation).
·
Problems with altitude, due to lack of oxygen to the brain. Patients may also have problems
ridding the “
·
Intolerance to prolonged hot baths or saunas, seen in JHS patients with Dysautonomia.
·
Early Osteoarthritis (OA). OA causes wear and tear of
joints. Due to the alteration of collagen the cartilages of patients with JHS
are weaker than normal and will wear out earlier. For this reason, we see OA in
young JHS patients and in them, the cartilage
destruction is more rapid.
·
Varicose veins and or Hallux Valgus in young people. The presence of these in young
people is suggestive of JHS.
·
Myopia
(difficulty to see something close). This eye problem appears to be usually
associated to astigmatism and its presence may suggest JHS. Another eye problem
that suggests JHS is strabismus (cross- eyes).
·
Extreme
mobility of the tongue. The tongue can be long, reaching the nose; mobile, able to make a
tube; turn around or even make a rosette. The absence of lingual frenulum in
children may herald hypermobility.
·
Low bone mineral density or osteoporosis in young males and females, without an apparent cause. In our study
of 972 JHS patients, osteoporosis was present in 19% of males and 19% of
females younger than 30 years old. We have treated osteoporosis in adolescents
with good result. These young patients with osteoporosis do not experience
fractures with the frequency that older patients with other types of
osteoporosis do.
·
Fibromyalgia
(FM). Many
patients diagnosed as having Fibromyalgia really have JHS, since many symptoms
are very similar, with recurrent pain, “trigger points”, chronic fatigue and
with normal laboratory tests. It is my opinion that FM is part of the JHS
disease, since all patients with FM that I see fulfill the
·
Associated congenital malformations. JHS patients frequently have associated
malformations, such as:
-
Scoliosis,
in infancy.
-
Hip
dysplasia.
-
Malformations
of the feet:
Flat feet.
Anterior or
longitudinal lax foot.
Cavus
foot (the opposite of flat feet).
Egyptian foot (second toe is
longer than the first.
Hallux
Valgus in young people.
Partial syndactily
(toes glued together).
-
Rotated
knees.
-
Spina bifida occulta (seen
on x-rays of the lumbar spine).
-
Spondylolisthesis (one vertebra sliding over the
next, as seen
on x-rays of the lumbar spine).
·
Patients with
some of the above signs or symptoms already described, that have seen many
physicians, undergone multiple tests, with negative results and the cause of
their problem remain unknown.
·
Relatives of JHS patients, presenting signs or symptoms suggestive of JHS or that already carry
the diagnosis of JHS.
·
Suggestive signs in children. Hip dysplasia. Scoliosis in infancy. Delayed
motor development (late walkers). Hypotonic muscles (soft). Recurrent sprains
or subluxations. Lack of concentration. Alleged dyslexia. Growing pains. Frequent
hematomas (alleged battered child). Children that perform “party tricks” with
their hands. Parents with JHS. Presence of Hypermobility.
Note: Any of these signs or symptoms may start at any age. It is necessary to remember
that children are more lax than adults and females more than males.
It is
important to know that Joint Hypermobility without symptoms is a good quality
to have, but when it produces pain and symptoms, then
we are dealing with a disease, Joint Hypermobility Syndrome (Ehlers-Danlos
Syndrome type III).
We are in a
campaign to convince physicians, public and patients that a better name for
this disease should be Ehlers-Danlos Syndrome type III (EDS-III), instead of Joint Hypermobility
Syndrome (JHS). The reason being is that
at least 50% of the patients with EDS-III (61% negative Beighton
Score) don’t have hypermobility, thus we cannot
catalog all of them as hypermobile. Furthermore, and
very important, when we speak of Joint Hypermobility Syndrome we do not give
the subject the importance it deserves, since, at a glance, it implies a good
condition to have, rather than a disease with frequent complications. This has brought us to conclude that the name
that we have been using, diverts the awareness of this disease, and is the reason
for the lack of interest by physicians and poor understanding of this disease
by patients and public in general.
Jaime F. Bravo, MD
Rheumatology Dep. San
Juan de Dios Hospital.
Professor of Medicine. University of
Revised; December 13, 2007
June 18, 2008
September 14, 2008
April 8, 2010
