When to suspect the Joint Hypermobility Syndrome (JHS)

When there is:

· History of recurrent musculo-skeletal injuries, such as: tendinitis (tennis elbow, trigger finger (tendinitis of the flexor tendon); Aquiles tendon tendinitis, etc.); bursitis of the shoulder, trocantéric bursitis of the hip o recurrent sport injuries (muscle or ligament tear). Ankle twisting (with or without sprain) or frequent sprains. “Growing pains” in children.

· Arthralgias (joint pain) or myalgias (muscle pain) for more than 3 months, without apparent cause.

· Joint hypermobility of one or more joints.   At times the joint laxity is obvious to anyone, affecting fingers, wrists, elbows, shoulders, etc. The person can or could before, touch the floor with the palm of the hands. Sometimes a patient may appear as not having hypermobility, since she/he has one or only a few lax joints. Men are less lax than females.

· Significant cracking noises of several joints.

· Ocular problems:  Light blue sclera (the white of the eye appears light blue) that can be very mild and difficult to distinguished by the untrained physician. It is due to transparency of the sclera, secondary to the alteration of the collagen. This does not produce any alteration of the vision. It is especially frequent in women (80%) and is useful for the diagnosis of JHS. Normal scleras are white like marble. Light blue scleras are normal under the age of two. JHS patients may have cross-eyes and myopia, even early in life. Occasionally patients may have Xerophthalmia and Xerostomia.

· Pale, soft, velvety, lax, skin (veins are seen due to transparency of the skin), with poor cicatrization or keloids (fibrotic scars). These skin alterations are seen in the majority of the patients (94%). The skin can be so typical (soft as velvet), that the diagnosis can be made just by shaking the patient’s hands. Telangiectasia (red- blueish superficial small veins). Livido reticularis (reddish net on the skin). Striae, without apparent cause. Droopy eyelids (“tired face”). Dark color of the skin over the extensor surfaces of elbows and dorsum of the small joints of the hands (looking like “dirty elbows”). Blackish-brown molls the size of a lentil called “lenticular lunars”.

· Typical JHS face *.

Characteristics:

§ Triangular face, with prominent chin.

§ Light blue sclera.

§ Atypical ears: prominent, with small or without lobule or lobule attached to the face, averted helix, “Dumbo ears”, “ Mr. Spock ears”, soft ears, operated ears, etc.

§ Asymmetric nose deviated nasal septum, prominence at the union of the cartilage to the bone. Operated nose.

§ “Droopy eyelids” or eyes with anti-mongolic slant (the opposite to chineses eyes).

· History that as a child she/he would amaze friends doing body contortions or could do a leg split, or lick her/his toes (“rubber child”) or had the ability to do “party tricks” (strange movements of the fingers).

· The presence of hypermobility signs, such as: “The flying bird hand” (active hyper-extension of the fingers) or the “Sign of the horizontal thumb” (active flexion of the thumb to place it horizontally in front of the palm, with the other fingers extended). We need to suspect JHS also if the person has the “Hand holding the head sign”, while placing the elbow on the table, as if having a tired neck.

· Joint sub-luxations: of the base of the thumbs, elbows, shoulders, hips, knees (patellar sub-luxations) and temporomandibular joint (TMJ), with bruxism or mandible sub-luxation, or with the sensation of imminent sub-luxation.

· Back problems since childhood or adolescence: lumbago due to scoliosis (lateral deviation of the spine), hyperlordosis (exaggerated curvature of the lumbar spine), disc disease or herniated nucleus pulposus. The most frequent cause of back pain is the laxitud of the spinal ligaments and can be helped with back exercises.

· Capillary fragility: easy ecchymoses with minimal trauma or without apparent cause. At times looking like “battering”. Sometimes there is a history of recurrent epistaxis (nose bleeds) or a bleeding tendency, which usually stops at the adolescence.

· Soft tissue problems: Hernias (hiatus hernia or inguinal hernias, nucleus pulposus hernia); varicose veins in young people, hemorrhoids, varicocele (varicose veins of the testicles); prolapse (failure of tissues), vaginal or rectal prolapse, mitral valve prolapse; cysts of all types (including Ganglion (wrist) and Baker’s cyst (back of the knee); reflux, constipation (including mega colon), irritable colon; myopia or strabismus.

· Neurological and physiological alterations: Depression, anxiety, panic crisis and phobias, are sometimes inherited together with joint hypermobility (Bulbena). Nervousness, headaches, migraines, restless legs, leg cramps. Poor memory, disorientation, lack of motivation, are also seen. Alteration of propioception sensation during examination (ignoring the place of a toe for example, when the examiner has it up or down).

· Marfanoid habitus (asthenic build): tall, slender, with long upper and lower extremities, arachnodactily (spider like hands), at times with pectum excavatum (deep chest) or pectus carinatus (prominent like a quill) or with prominent lower ribs. Nowadays this marfanoid habitus is frequently seen in Chilean adolescents, with young women looking like models, with slender figure, long necks, square shoulders, and long, delicate fingers, while boys are tall and ungainly. The Marfanoid habitus is one of the minor signs of the Brighton criteria for the diagnosis of JHS and it can be seen both in JHS and in Marfan syndrome, it is called this way because the patient has Marfan Syndrome resemblance, which is a much more serious condition, since it can have dilatation or rupture of the aortic artery.

· History of sudden rupture of the lung (expontaneous pneumothorax). This complication is more frequent in the Marfan Syndrome (MFS), but it is also seen in JHS patients with marfanoid habitus.

· Cardiovascular problems like poor circulation (diffuse swelling of the hands, which turns lilaceous), arrhythmias and Mitral Valve Prolapse. JHS does not produce cerebral aneurisms or arterial ruptures.

· Chronic Fatigue, dizziness and occasional syncope are due to an Autonomous Nervous System alteration called Dysautonomia. It was very frequent occurring in 64% of women and 40% of men, younger than 30 years old, in our recent study of 1,000 JHS patients, characterized by:

§ Low blood pressure (hypotension), which at times is only occasional.

§ Dizziness or syncope.

§ Cold intolerance and at times with “bad thermostat” (also having heat intolerance).

§ Tiredness, chronic fatigue and somnolence.

§ Severe hand perspiration, cold hands and feet.

§ Acrocianosis (reddish-bluish-purplish discoloration of the hands), not only with cold weather, but also with dependency and inactivity of the hands.

· Digestive problems, like severe constipation (mega colon), reflux, irritable bowel syndrome and diverticulosis (little sacs in the colon). Extreme mobility of the tongue or long tongue, able to touch the nose.

· Early osteoarthritis (wear and tear of the joints), appearing in young people, erosive osteoarthritis (destructive) and osteoarthritis of rapid progression.

· Low bone mineral density or Osteoporosis in young men and women, without apparent cause. This is a frequent problem, 22% in our recent study and more intestingly, it appeared in 19% of males and females JHS patients, younger than 30 years old.

· Patients diagnosed as having Fibromyalgia could have JHS, since both conditions have similar symptoms, such as “trigger points”, chronic fatigue, with or without depression and both with normal laboratory tests.

· Gyneco-obstetric problems with menstrual irregularities, infertility, expontaneous abortions, vaginal tears and hemorrhages during labor.

· Lack of a good response to local anesthetics, such as the one given by a dentist, an epidural injection or when suturing a laceration.

· Poor tolerance to altitude, over 1,000 meters or with the Russian Mountain, because of aggravation of the Dysautonomia.

· Associated congenital malformations. JHS frequently have:

· Scoliosis in childhood, hip displacia, rotated knees, foot problems (flat feet, lax feet, pes cavus (high arch), Egyptian foot, (second toe is longer than the first), partial syndactilia (toes partially glued together), closed spina bifida (occulta), spondylolisthesis (slipped vertebra over the next), deep or prominent chest (pectum excavatum or carinatus).

· Family history: relatives with similar signs and symptoms or history of hip displacia, scoliosis (lateral deviation of the spine), varicose veins in adolescence, chronic fatigue associated to low blood pressure, early Osteoporosis, recurrent hernias (even in childhood), poor cicatrisation or queloids (fibrotic scars) or relatives that have joint hypermobility or had been diagnosed as having hypermobility. Also relatives which had a cerebral aneurysm, arterial ruptures, expontaneous lung rupture (expontaneous pneumothorax) or if a close relative died suddenly before the age of 30, without a known cause.

Note: Any of these symptoms or signs can start at any age, even in children. These are more lax than adults and women more lax than men. Orientals are more lax than color people and these more than Caucasians. Frequently a person may have only one or a few lax joints and she/he may not even know that she has hypermobility.

* The typical JHS face was first described by Jaime F. Bravo MD, in the Chilean Rheumatology Journal (vol. 20, 2004) and Arthritis & Rheumatism (February 2006). Characteristic pictures can be seen in Posters presented at the Arthritis Congress in San Antonio, Texas and at Termas de Chillan, Chile (2004). They can also be seen at www.reumatologia-dr-bravo.cl.

Jaime F. Bravo, MD

Rheumatology-Osteoporosis

Revised: February 28, 2007

December 13, 2007

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