Hypermobility syndrome

Classification according to ICD-10
M35.7	Hypermobility syndrome
ICD-10 online (WHO version 2019)

The hypermobility syndrome (HMS) is a heterogeneous group of congenital disorders in the connective tissue, which is mainly characterized by general overmobility of the joints in connection with complaints in the musculoskeletal system; to the exclusion of other causal diseases (e.g. rheumatism). Although the pathological physiology is not yet fully understood, it is differentiated from the isolated hypermobility of individual joints and other diseases of the connective tissue with generalized hypermobility, such as Marfan syndrome , Ehlers-Danlos syndrome , rheumatoid arthritis or osteogenesis imperfecta .

Hyperextension index finger

Hyperextension toe

"Finger snail"

Beighton Score - thumb reaches forearm

Hyperextension thumb - thumb reaches the forearm from behind

Other names for HMS

• Familial hypermobility syndrome
• familial articular hypermobility syndrome
• hypermobility syndrome
• hypermobile joint syndrome
• (benign) benign hypermobile joint syndrome

without recording as a syndrome:

• Joint hyperlaxity (bsd. Switzerland)
• Joint hypermobility - articular or joint hypermobility

history

The name hypermobility syndrome goes back to the first publication in which Kirk described the complaints of a group of otherwise healthy people who apparently had a wide variety of complaints only because of their hypermobility. Before that, individual reports of similar symptoms were recorded by different doctors, without, however, defining the cause of the hypermobility alone. In 1986 HMS was included in the International Nosology of Hereditary Dysfunction of Connective Tissue.

Definition and prevalence

If a joint is actively and / or passively movable beyond what is caused by the joint morphology and its connective tissue guidance, it is considered hypermobile. The demarcation between normal and hypermobile is fluid. The possible causes are traumatic, destructive or habitual reasons. On the other hand, there is polyarticular, predominantly symmetrical, generalized articular hypermobility that is systematized in joint groups or that is widespread .
Joint hypermobility is physiological in young children. With puberty, the stabilizing maturation of the joints is completed and mobility generally decreases with age. Generalized or constitutional hypermobility varies in adults according to ethnicity. About 3% of Europeans meet the criteria of hypermobility (Beighton score ≥ 5). Women are 3: 1 to 5: 1 more affected than men.

Beighton Score Screening Test to determine hypermobility
Palms can be placed on the floor with the knees extended	1 point
The elbows can be overstretched by ≥10 °, right and left	1 point per side
Thumb touches the forearm	1 point per side
Hyperextension of the base joint of the little finger to 90 °	1 point per side
Overstretchability of the knee joints by ≥10 °	1 point per side

Evaluation: 0–2 points = not hypermobile; 3–4 points = moderately hypermobile; ≥ 5 points = generalized hypermobility

The generalized hypermobility initially appears to have no pathological significance. As a preliminary condition, however, it represents a significant disease potential. This manifests itself with painful, synovial, capsular, periarticular enthesiopathic and muscular reactions as a result of functional and morphological overstrain due to instability, dislocations and traumatic vulnerability. Only with musculoskeletal complaints such as arthralgia and ligament pain does the articular abnormality become the clinical picture of the hypermobility syndrome.
It is not known how many people have hypermobility syndrome.

diagnosis

Differential diagnoses
Ehlers-Danlos syndrome Q79.6
Marfan syndrome Q87.4
Rheumatoid arthritis M06
Fibromyalgia M79.7
growing pains

The majority of the adult population achieved a Beighton Score of 0, 1 or 2. But even a higher score does not take into account the clinical situation. Therefore, in 2000, the Brighton Criteria for Detecting Hypermobility Syndrome in Adults were proposed. The sensitivity (true positive rate) and specificity (true negative rate) of the test is very high at 93 percent (cf. Grahame R.).

Main criteria

• Beighton Score ≥ 4 (current or historical)
• Arthralgia for more than 3 months in 4 or more joints

Secondary criteria

• Beighton Score 1.2 or 3/9 (0, 1.2 or 3/9 if> 50 years)
• Arthralgia for more than 3 months in 1 to 3 joints or back pain, spondylolisthesis , spondylarthrosis
• (Sub) dislocations in more than one joint or several times in one joint on different occasions
• Soft tissue rheumatism in more than 3 places (e.g. tennis elbow , tendinitis , bursitis )
• Marfanoid habitus (tall, slender, arm span to body size ratio> 1.03, lower body ratio <0.89, spider fingers)
• Abnormal skin (stretch marks, thin peelable skin, cigarette paper scars)
• Eye signs (drooping eyelids, antimongoloid eye axis)
• Varicose veins, hernias, uterine or rectal prolapse

The diagnosis of hypermobility syndrome is made in the presence of:

• 2 main criteria or
• 1 main criterion and 2 secondary criteria or
• 4 secondary criteria or
• 2 secondary criteria and positive family history in the first degree

Hypermobility Syndrome vs. EDS hypermobile type (EDS III)
Currently the clinical criteria that apply to the hypermobility syndrome and the hypermobile variant of EDS are unspecific and not exclusive for both parties. Therefore, some doctors and scientists believe that hypermobility syndrome is a mild variant of the hypermobile type of EDS.

forecast

The onset of symptoms in hypermobility syndrome varies among those affected and is as diverse as the symptoms. The earliest manifestation is in toddlers with difficulty learning to walk. A second group experiences the first problems during puberty or the late growth phase. The latest occurrence is usually recorded in the thirties of those affected, when the first serious symptoms appear after a change in living conditions or after an accident. For everyone, however, the disease usually takes a progressive, progressive course and is not infrequently perceived as a downward spiral. It is generally known that hypermobility decreases with age. However, this does not have to apply to the symptoms of hypermobility syndrome.
Life expectancy is normal, apart from the few cases with severe vascular involvement. The quality of life is clearly restricted by the pain and functional restrictions that occur.
There is currently no treatment for the disease, either for the cause or the symptoms. Research projects investigate the muscle functions in hypermobile people. Others deal with the differences / similarities between the hypermobility syndrome and EDS hypermobile variant. However, no breakthroughs are expected in the near future.

therapy

A causal therapy for hypermobility syndrome is not available. However, in the four groups of complaints: orthopedic problems, effects on the nervous system, blood vessel changes and pain treatment, significant peculiarities compared to the classic therapeutic approaches.

Orthopedic problems

The special feature is the frequency and severity of orthopedic problems in hypermobility syndrome, which make orthopedic corrections, aids and further treatments more often necessary. A general restraint is advised when it comes to surgical treatment, since on the one hand, particularly ligament ruffles or similar often do not promise the desired long-term success and, on the other hand, the scarring in the tissue and skin can be disturbed. In physiotherapy, the focus is on building up or securing deep stability. Posture control, correction and training also and especially with water therapy are of great importance. Building muscle in the classic sense, on the other hand, is rather counterproductive because it does not build stability and could even have the opposite effect. Tai Chi, Pilates, special breathing exercises and other gentle forms of training are to be preferred while avoiding overstretching. Contact sports should be avoided as well as long-lasting, persistent or often repetitive activities in everyday life. In addition, knowledge and techniques of movement within the medium range of motion are required.

Although the impairment of the nervous system is not the direct focus of the disease, there are often serious complications. Nerve pinch-offs due to muscle tension or slipping of the vertebrae can occur, as can nerve stretching due to excessive mobility with accompanying symptoms of paralysis or sensory disorders. In terms of therapy, it must be taken into account that these symptoms can occur in hypermobile people without any trauma and that, if they occur repeatedly, strategies for prevention should also be used, e.g. B. Use of ruff or neck pillow or similar.

Blood vessel changes

Strokes or circulatory disorders in the brain do not only occur more frequently with the EDS of the vascular type, but also with the EDS of the hypermobile type and the hypermobility syndrome. In this respect, increased caution and sensitivity in recognizing early symptoms are indicated for all of these affected persons.

Pain management

In the case of hypermobility syndrome, pain is the most restrictive phenomenon in terms of the quality of life, in addition to functional restrictions. In addition to the direct pain caused by sprains, dislocations, etc., they also occur without trauma and despite negative findings from imaging procedures in joints, tendons and muscles. One theory is based on an insufficient supply of the muscle cells with oxygen, which then acts directly with tension on the muscle attachments and the joints. If chronic pain occurs, comprehensive pain therapy is preferable to self-medication with non-opioid drugs because of the long-term side effects. In addition to non-medicinal products (talk therapy, relaxation techniques), weak opiates (tilidine, codeine and tramadol) or even strong opiates as well as a combination with analgesic antidepressants are available.

Behavioral training

Knowledge of the disease, its causes and strategies to minimize its effects play a crucial role in therapy. Only in this way can those affected move consciously, avoid bad posture, use aids in a targeted manner, and much more. It is a lifelong process that requires daily attention. The advice for everyday life is: Avoid trauma and always stay in the middle of the range of motion (no end positions of joints). Stretching, as much as it may seem desirable for the individual, should be avoided.
In addition, each person affected must develop their own strategy, as the complaints and symptoms are different in type and severity and there are no general recipes. A permanent contact person from the medical field is very helpful for constant problem solving.

Doctors and therapists

The knowledge of hypermobility syndrome as a connective tissue disease with its various effects on patients is not very widespread among doctors and therapists. So far, this has only been dealt with in exceptional cases during training and is therefore largely unknown. Early detection is essential for an early change in the lifestyle of those affected.

literature

• German Ges. F. Orthopedics and orthopedics. Surgery + BV d. Doctors f. Orthopädie (Ed.): Guidelines of orthopedics. 2nd Edition. German Doctors-Verlag, Cologne 2002.
• D. Becker-Capeller, MH Weber: Primary Generalized Fibromyalgia Syndrome. In: Rheumatology . 33, 1994, p. 889.
• Beighton score
• C. Hasler, W. Dick: Spondylolysis and Spondylolisthesis in Growing Age. Spondylolysis and Spondylolisthesis during growth. In: The orthopedist. 2002, Vol. 31, (1), pp. 78-87.
• R. Keer, R. Grahame: Hypermobility Syndrome - Recognition and Management for Physiotherapists. 2003.
• J. Sachse: The local pathological hypermobility. An overview. In: Manual Medicine. 2004, Vol. 42 (1), pp. 17-26.
• M. Seidel: Hypermobility. In: Music Physiology and Musicians' Medicine. 2009, Volume 16, No. 3, p. 163 ff.
• L. Virta, T. Rönnemaa: The association of mild-moderate isthmic lumbar spondylolisthese and low back pain in middle-aged patients is weak and it only occurs in women. In: Spine. 1993, Vol. 18 (11), pp. 1496-1503.

Individual evidence

1. ^ Leslie N. Russek: Examination and Treatment of a Patient with Hypermobility Syndrome. In: Physical Therapy - Journal of the American Therapy Association. 80, 2000, pp. 386-398.
2. ↑ JA Kirk (Ed.): The hypermobility syndrome: musculoskeletal complaints associated with generalized joint hypermobility. In: Ann Rheum Dis . 26, 1967, pp. 419-425.
3. ↑ P. Beighton (Ed.): International Nosology of Heritable Disorders of Connective Tissue. In: American Journal of Medical Genetics. 29, 1988, pp. 581-594.
4. ↑ F. Schilling, E. Stofft: The hypermobility syndrome - overview, large family case history and pathology of the collagen texture. In: Osteol. 12, 2003, pp. 205-232.
5. ^ L. Larsson (Ed.): Benefits and Disadvantages of Joint Hypermobility among Musicians. In: N Engl J Med . 329, 1993, pp. 1079-1082.
6. ↑ P. Beighton (Ed.): Articular mobility in an African population. In: Ann Rheuma Dis. 32, 1973, pp. 413-418.
7. ^ R. Grahame: The revised (Beighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). In: The Journal of Rheumatology . 27, 2000, pp. 1777-1779.
8. ↑ L. Remvig, DV Jensen, RC Ward: Are diagnostic criteria for general joint hypermobility and benign joint hypermobility syndrome based on reproducible and valid tests? A review of the literature. In: J Rheumatol. 34, 2007, pp. 798-803.
9. ^ R. Keer, R. Grahame: Hypermobility Syndrom - Recognition and Management for Physiotherapists. ISBN 978-0-7506-5390-9 , p. 20.
10. ↑ M. Seidel: Hypermobility. In: Music Physiology and Musicians' Medicine. Volume 16, No. 3, 2009, p. 172 ff.
11. ↑ J. Dommerholt: Treating the trigger, advancefor. In: Physical Therapists & PT Assistance. Vol. 19, Issue 6, p. 26.

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