When there is:
- History of recurrent musculo-skeletal injuries, such as: tendinitis (tennis elbow, trigger finger; Aquiles tendon tendinitis, etc.); bursitis (shoulder, hip); recurrent sport injuries (muscle or ligament tear). Ankle twisting (with or without sprain) or frequent sprains. “Growing pains” in children.
- Arthralgias or myalgias for more than 3 months, without apparent cause. JHS is the most frequent cause of pain in the rheumatological practice.
- 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 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 and does not produce any ocular problems. 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 in children under age two. JHS patients may have cross-eyes and myopia, even early in life. Occasionally patients may have Xerophthalmia and Xerostomia.
° Pale, soft, velvety skin, that because of transparency (thin skin) can show the veins. which can be prominent especially in the dorsum of the hands. Poor cicatrisation, at times with queloids. Frequently seen are telangectasias, Livido reticularis and striae, which are seen in young people, especially in the lumbar area. Droopy eyelids, like tired eyes. The skin on the extensor surface of the elbows and small joints of the fingers is at times dark (“dirty elbows”).
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, hyperlordosis, disc disease or HNP. 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”. In children with ecchymoses due to capillary fragility and normal coagulation studies, the diagnosis is usually confused with Von Willebrand Disease. Sometimes there is a history of recurrent epistaxis or a bleeding tendency, which usually stops at the adolescence.
- Soft tissue problems: Hernias (hiatus hernia or inguinal hernia, nucleus pulposus hernia); varicose veins in young people, hemorrhoids, varicocele; vaginal or rectal prolapse, mitral valve prolapse; cysts of all types (including Ganglion (wrist) and Baker’s cyst; 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. Propioception alteration is seen at times in the examination of these patients.
- Marfanoid habitus (asthenic build): tall, slender (at times with mild dorsal xyphosis), long upper and lower extremities, arachnodactily, at times with pectum excavatum or pectus carinatus 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 sign of the Brighton Criteria for the diagnosis of JHS and it can be seen both in JHS and in Marfan syndrome.
- History of expontaneous pneumothorax. This complication is more frequent in the Marfan syndrome (MFS), but it is also seen in JHS patients with marfanoid habitus. Is more frequent in males than in females.
° 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 in our recent study of 1,000 cases of JHS, occurring in 64% of females and 40% of males, under the age of 30, characterized by:
- Hypotension, which at times is only occasional (Orthostatic hypotension).
- Tiredness, chronic fatigue and somnolence.
- Dizziness or syncope.
- Cold intolerance and at times with “bad thermostat” (also having heat intolerance).
- Severe hand diaphoresis, 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. Extreme mobility of the tongue or long tongue, able to touch the nose.
- Early osteoarthritis, appearing in young people, erosive osteoarthritis 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 has:
Scoliosis in childhood, hip displacia, rotated knees, foot problems (flat feet, lax feet, pes cavus, Egyptian foot, (second toe is longer than the first), partial syndactilia, spina bifida occulta, spondylolisthesis, pectus excavatum or carinatus, prominent lower ribs, etc.
- Family history: relatives with similar signs and symptoms or history of hip displacia, scoliosis, varicose veins in adolescence, chronic fatigue associated to low blood pressure, early Osteoporosis, recurrent hernias (even in childhood), poor cicatrisation or queloids or relatives that have joint hypermobility or had been diagnosed as having hypermobility. Also relatives which have had cerebral aneurysm, arterial ruptures, expontaneous pneumothorax or if someone 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.