Syndrome of hypermobility of joints - Causes, symptoms and treatment. MF.

Hypermobile syndrome( HS) - a systemic connective tissue disease characterized by joint hypermobility( HMS), is combined with complaints from the musculoskeletal system and / or internal and external phenotypic signs of connective tissue dysplasia, in the absence of any other rheumatic disease.

Symptoms of hypermobility syndrome of joints are diverse and can mimic other, more common joint diseases. In connection with a lack of familiarity with this pathology of medical therapists, and in some cases even rheumatologists and orthopedists, a correct diagnosis is often not established. Traditionally, the attention of the doctor is drawn to the detection of the limitation of the volume of movements in the affected joint, and not the definition of excess volume of movements. Moreover, the patient himself will never report excessive flexibility, since he has been living with her since childhood and, moreover, is often convinced that this is more a plus than a minus. Typical are two diagnostic extremes: in one case, in connection with the lack of objective signs of pathology on the part of the joints( except for the viewed hypermobility) and normal laboratory parameters, the young patient is diagnosed with "psychogenic rheumatism"; in another case, the patient is diagnosed with rheumatoid arthritis or a seronegativespondyloarthritis and prescribe appropriate, far from harmless treatment.

Constitutional hypermobility of joints is defined in 7-20% of the adult population. Although in most patients the first complaints occur during the adolescent period of life, the symptoms can appear at any age. Therefore, the definitions of "symptomatic" or "asymptomatic" HMS are rather conditional and reflect only the condition of an individual with a hypermobile syndrome in a certain period of life.

Causes of hypermobility of joints

Acquired excessive mobility of joints is observed in ballet dancers, athletes and musicians. Long repeated exercises lead to stretching of ligaments and capsule of separate joints. In this case, local hypermobility of the joints takes place. Although it is obvious that in the process of professional selection( dancing, sports), persons who initially have constitutional flexibility have a clear advantage, the factor of fitness certainly holds. Changes in the flexibility of the joints are also observed in a number of pathological and physiological conditions: acromegaly, hyperparathyroidism, pregnancy.

Generalized hypermobility of joints is a characteristic feature of a number of hereditary connective tissue diseases, including Marfan syndrome, imperfect osteogenesis, Ehlers-Danlos syndrome. These are rare diseases. In practice, the physician is much more likely to deal with patients with isolated hypermobility of joints, not associated with training, and in some cases combined with other signs of weakness of connective tissue structures.

Almost always it is possible to establish the family nature of the observed syndrome and concomitant pathology, which indicates the genetic nature of this phenomenon. It is noticed that the hypermobile syndrome is inherited on the female line.

Diagnosis of joint hypermobility syndrome

Among the many proposed methods for measuring the volume of movements in the joints, the Beaton method, which is a nine-point scale, assesses the subject's ability to perform five movements( four pairs for limbs and one for the trunk and hip joints).Beiton proposed a simplified modification of Carter's and Wilkinson's previously known method.

Change in movement volume

Criteria for Bayton

1. Passive extension of the little finger of the hand more than 90 °.
2. Passive pressing of the thumb of the hand to the inside of the forearm.
3. Rebreathing in the elbow joint more than 10 °.
4. Rebreathing in the knee joint more than 10 °.
5. Anterior tilt of the trunk with the palms of the floor touching the straight legs.

This is a simple and time-consuming screening procedure and is used by doctors.

Based on a number of epidemiological studies, the norms of joint mobility for healthy people have been determined. The degree of mobility of the joints is distributed in the population in the form of a sinusoidal curve.

Ordinary for Europeans is the Beiton score from 0 to 4. But the average, "normal" degree of mobility of the joints is significantly different in age, sex and ethnic groups. In particular, when examining healthy individuals in Moscow at the age of 16-20 years, among women more than half, and among men more than a quarter showed a degree of HMS, exceeding 4 points in Beiton. Thus, in the absence of complaints from the musculoskeletal system, the excessive mobility of the joints in comparison with the average index can be considered as a constitutional feature and even the age norm. In this regard, in pediatric practice, there are no generally accepted rates of mobility of joints - this indicator varies significantly during the growth period of the child.

The so-called Brighton criteria for benign HMS syndrome( 1998) are presented below. In these criteria, the importance of extra-articulate manifestations of the weakness of connective tissue structures is attached, which makes it possible to talk about the syndrome of HMS and in individuals with normal movements in the joints( as a rule, older persons are meant).

Criteria for joint hypermobility syndrome

For the establishment of hypermobility, a scoring is generally accepted: 1 point means pathological overdistension in one joint on one side. The maximum value of the indicator, taking into account two-way localization - 9 points( 8 - for the first 4 points and 1 - for the 5-th point).The index from 4 to 9 points is regarded as a state of hypermobility.

Large criteria

• Score of the Beeton scale 4 or more( at the time of inspection or in the past)
• Arthralgia for more than 3 months in four or more joints

Small criteria

• Score on the Beaton scale 1-3( for people over 50 years)
• Arthralgia less than 3 months in one to three joints or lumbula, spondylosis, spondylolysis, spondylolisthesis
• Dislocation / subluxation in more than one joint or repeated in one joint
• Periarticular lesions of more than two sites( epicondylitis, tenosynovitis, bursitis)
• M(high growth, leanness, arm / height ratio> 1.03, upper / lower body segment ratio <0.83, arachnodactyly)
• Abnormal skin: thinness, hyperextension, striae, atrophic scars
• Eye signs:overhanging eyelids or myopia or antimonogloid fold
• Varicose veins or hernia or uterine / rectum prolapse.

The diagnosis of SGMS requires the presence of two large, one large and two small or four small criteria. Excluded: Marfan syndrome in the absence of loss of the lens and the ascending aorta;imperfect osteogenesis in the absence of multiple bone fractures and "blue" sclera

Symptoms of hypermobility syndrome of joints

The hereditary defect of collagen is the basis of HS pathogenesis, accompanied by hyperextension and reduction of mechanical strength of connective tissue structures( including ligaments, enthesis, tendons) leading tosubluxation and microtraumatism of the joint apparatus( including the spine).

Symptomatic syndrome is multifaceted and includes both articular and extraarticular manifestations, in general terms reflected in the mentioned Brighton criteria of HMS syndrome.

An important help in diagnosis is given by an attentive collection of anamnesis. A characteristic fact in the history of the patient's life is his special sensitivity to physical exertion and a tendency to frequent injuries( stretching, subluxation of joints in the past), which allows thinking about the inconsistency of connective tissue. The excessive volume of movements in the joints revealed by the method of Beiton supplements the actual clinical forms of the manifestation of the joint hypermobility syndrome.

Articular symptoms and potential complications of hypermobility syndrome

Arthralgia and myalgia. The debut of arthralgias falls on a young age, mostly female. Sensations can be painful, but not accompanied by visible or palpable changes from the joints or muscles. The most frequent localization - knee, ankle, small joints of brushes. The children described a pronounced pain syndrome in the hip joint area that responds to massage. The degree of pain is often affected by emotional state, weather, the phase of the menstrual cycle.

Acute post-traumatic articular or periarticular pathology of , accompanied by synovitis, tenosynovitis or bursitis.

Periarticular lesions of ( tendinitis, epicondylitis, other enterosopathies, bursitis, tunnel syndromes) occur in patients with SGMS more often than in the population. Occur in response to an unusual( unusual) load or minimal injury.

Chronic mono- or polyarticular pain , in some cases accompanied by a moderate synovitis, provoked by physical exertion. This manifestation of the SGMS most often leads to diagnostic errors. The cause of the pain syndrome is a change in the sensitivity of the proprioceptors to the load of the joints on the background of joint hypermobility.

Repeated dislocation and subluxation of joints. Typical localization - humeral, patello-femoral, metacarpophalangeal joints. Stretching of ligaments in the ankle.

Development of early( premature) osteoarthritis .This can be both true nodular polyostoarthrosis and secondary lesion of large joints( knee, hip) that occurs against the background of accompanying orthopedic anomalies( flat feet, unrecognized hip dysplasia).

Back pain .Thoracalgia and lumbulgia are common in the population, especially in women older than 30, so it is difficult to make an unambiguous conclusion about the relationship of these pains with the hypermobility of the joints. However, spondylolisthesis is reliably associated with HMS.

Symptomatic longitudinal, transverse or combined flatfoot and its complications: medial tenosynovitis in the ankle, valgus deformity and secondary arthrosis of the ankle( longitudinal flatfoot), hindlimb bursitis, thalgia, "napotishi", "hammer-like" deformation of the fingers, Hallux valgustransverse flatfoot).

The inadequacy of the connective tissue fixation apparatus of the spine under the influence of unfavorable factors( long nonphysiological pose, the difference in the length of the lower limbs, carrying the bag on one shoulder) entails compensatory development of deformations of the spine ( scoliosis), followed by overstrain of the musculoskeletal structures of the spine and the appearance of painsyndrome.

Extra-articular manifestations of the syndrome.

These signs are natural, since the main structural protein collagen, which is primarily involved in the described pathology, is also present in other supporting tissues( fascia, dermis, vessel wall).

• Excessive skin extensibility, its fragility and vulnerability.
• Stresses not related to pregnancy.
• Varicose disease, starting in young years.
• Mitral valve prolapse( prior to the introduction of echocardiography in the 1970s and 1980s, many patients with HMS syndrome were observed in a rheumatologist with a diagnosis of rheumatism, a minimal degree of activity due to complaints of joint pain and heart murmurs associated withprolapse of valves).
• Hernias of different localization( umbilical, inguinal, white belly lines, postoperative).
• Omission of internal organs - stomach, kidneys, uterus, rectum.

Thus, when examining a patient with suspected hypermobility syndrome, and this is every patient of young and middle age with non-inflammatory articular syndrome, it is necessary to pay attention to possible additional signs of systemic dysplasia of connective tissue. Knowledge of phenotypic manifestations of Marfan's syndrome and imperfect osteogenesis makes it possible to exclude these hereditary diseases. In the event that obvious skin and vascular signs are revealed( hyperelasticity of the skin and spontaneous formation of bruises without signs of coagulopathy), it is legitimate to talk about the Ehlers-Danlos syndrome. An open question remains the differential diagnosis of the syndrome of benign hypermobility of the joints and the most "mild", hypermobile type of Ehlers-Danlos syndrome. With the help of Brighton criteria, this can not be done, as the authors specifically mention;in both cases, there is a moderate involvement of the skin and vessels. No biochemical marker is known for either syndrome. The question remains open and will, apparently, be solved only with the detection of a specific biochemical or genetic marker for the described states.

Given the widespread prevalence of constitutional hypermobility of joints in the population, especially among young people, it would be erroneous to explain all the joint problems in this category of persons only by hypermobility. The presence of hypermobile syndrome does not exclude the possibility of developing any other rheumatic disease in them, which they are subject to with the same probability as persons with normal volume of movements in the joints.

Thus, the diagnosis of hypermobility syndrome of joints becomes justified when other rheumatic diseases are excluded, and the available symptoms correspond to the clinical signs of the syndrome, logically complemented by the identification of excessive mobility of joints and / or other markers of generalized involvement of connective tissue.

Complications of hypermobile syndrome

Acute( traumatic)
1. Recurrent subluxations in the ankle joint.
2. A break in the meniscus.
3. Frequent fractures of bones.
4. Acute or recurrent subluxations of the shoulder, patella,
of the metacarpophalangeal, temporomandibular joints.
5. Traumatic arthritis.

Chronic( non-traumatic)
1. Epicondylitis.
2. Tendonitis.
3. Syndrome of the rotator cuff of the shoulder.
4. Bursitis.
5. Episodic juvenile arthritis( synovitis) of the knee joints( without signs of a systemic inflammatory reaction).
6. Nonspecific arthralgia.
7. Scoliosis.
8. Back pain.
9. Chondromalation of the patella.
10. Osteoarthritis.
11. Fibromyalgia.
12. Dysfunction of the temporomandibular joint.
13. Carpal and Tarsal Tunnel Syndromes.
14. Acroparesthesia.15. Acute breast exit syndrome.
16. Flattening.
17. Raynaud's syndrome.
18. Delayed motor development( in children).
19. Congenital dislocation of the hip.

Treatment of hypermobility syndrome

Treatment of a patient with a hypermobile syndrome depends on the specific situation. The variety of manifestations of the syndrome assumes a differentiated approach to each individual patient. It is important to understand the very cause of problems - "weak ligaments", this is not a serious illness and does not face any disability with an adequate lifestyle. With moderate arthralgia, it is sufficient to exclude the load causing pain and discomfort in the joints.

Decisive in the treatment of severe pain are non-drug methods, and first of all - the optimization of lifestyle. This involves bringing the loads and the threshold of their tolerability into compliance with this patient. It is necessary to minimize the possibility of injuries, which includes the professional orientation and exclusion of game sports.

For stubborn pains in one or more joints, elastic orthoses( knee pads, etc.) are used, providing an artificial limitation of the volume of movements. It is very important to timely correct the detected flat feet. The shape and stiffness of the insoles is determined individually, which largely determines the success of the treatment. Often, it is possible to cope with stubborn arthralgia of knee joints solely in this way.

In ensuring the stability of the joint, an important role is played not only by ligaments, but also by the surrounding muscles of the joint. If the exercises can not affect the condition of the ligament apparatus, then strengthening and increasing the strength of the muscles is a real task. Gymnastics in the syndrome of hypermobility of the joints has a feature - it includes so-called "isometric" exercises, in which there is a significant muscle tension, but the volume of movements in the joints is minimal. Depending on the localization of the pain syndrome, it is recommended to strengthen the muscles of the hips( knee joints), the shoulder girdle, back, etc. It is useful to swim.

Medication therapy is applicable as a symptomatic treatment for arthralgia. Since the pain in the hypermobility syndrome of the joints is mostly non-inflammatory, it can often be seen that there is no effect on the use of non-steroidal anti-inflammatory drugs. In this case, a greater result can be achieved by taking analgesics( paracetamol, tramadol).

Intra-articular administration of corticosteroids in the absence of signs of synovitis is absolutely ineffective.

Taking into account the pathogenetic basis of the inconsistency of connective tissue and the systemic nature of the manifestations of the joint hypermobility syndrome, the main direction of treatment is the correction of the disturbed collagen metabolism. This helps to prevent possible complications. The means stimulating collagen formation include ascorbic acid, preparations of mucopolysaccharide nature( chondroitin sulfate, glucosamine sulfate), vitamins of group B( B1, B2, B3, B6) and trace elements( copper, zinc, magnesium).The latter are cofactors of intra- and extracellular maturation of the molecule of collagen and other structural elements of connective tissue.

A special role in the regulation of connective tissue metabolism is taken by magnesium. In conditions of its lack, the degradation of collagen and, possibly, elastin fibers, as well as hyaluronan polysaccharide filaments, is increasing. This is due to the inactivation of hyaluronan synthetases and elastases, as well as an increase in the activity of hyaluronidases and matrix metalloproteinases. At the cellular level, magnesium deficiency also leads to an increase in the number of dysfunctional t-RNA molecules, thereby slowing down the rate of protein synthesis. In addition, an autoimmune reaction due to the presence of the Bw35 allele of the HLA system plays a role in the degradation of the connective tissue. Activation of T-cell immunity to connective tissue components containing receptors corresponding to the Bw35 antigen results in the degradation of the connective tissue matrix, which is associated with uncontrolled magnesium loss. Increased expression of this antigen was observed in patients with a primary prolapse of the mitral valve, which is a phenotypic marker of the hypermobile syndrome. A number of studies have shown the principal possibility of slowing down the degeneration of connective tissue in the treatment of magnesium preparations. This is achieved by enhancing the biosynthetic activity of the fibroblasts responsible for the normalization of the fibrous structures of the connective tissue matrix.

With periarticular lesions( tendinitis, enthesopathies, bursitis, tunnel syndromes), the tactics of treatment are practically the same as those of ordinary patients. In moderately expressed cases, these are ointments with non-steroidal anti-inflammatory drugs in the form of applications or compresses;in more resistant - local administration of small doses of glucocorticosteroids that do not have a local degenerative action( suspension of methylprednisolone crystals, betamethasone).It should be noted that the effectiveness of local therapy with corticosteroids depends to a large extent on the correctness of the formulation of the topical diagnosis and the technique of the procedure itself.

Timely metabolic therapy plays an important role in the treatment and prevention of potential complications of hypermobility syndrome.

Doctor therapist Loginov EV