How is Hypermobility Diagnosed?

Hypermobility Diagnosed By Taking History:

Varicose veins, hernias, and visceral prolapse in the past.

1. Have you ever been able to lie down on the ground with your hands smooth without twisting your knees?
2. Have you continually bent your thumb so much that it brushed up against your forearm?
3. Could you perform the splits or twist your body into weird forms to entertain your pals when you were a kid?
4. Did you dislocate your shoulder or kneecap more than once as a kid or a teenager?
5. As a child or adolescent, did you ever consider yourself to be double-jointed?

Interpretation:

Both major criteria are agreed upon, or 01 major and 02 minor criteria are agreed upon, or 04 minor criteria are agreed upon the major 01, and minor 01, as well as major 02, and minor 02, are mutually high-class criteria. Answering yes to two or more questions in a row is referred to as agreement.(1)

Hypermobility Diagnosis based on Sign and Symptoms:

Hypermobility has a wide range of signs and symptoms. Joint pain, which can affect one or multiple joints and be generalized or symmetrical, is the most common complaint in hypermobile patients. The five basic questions can help primary care physicians recognize hypermobility.  Muscle cramps (after strenuous activity) and joint stiffness are two further concerns. Subluxations and dislocations are common in people with Hypermobility.(2)

Hypermobility symptoms include:

Can you move your thumb to contact your forearm in the manner illustrated?

Can your tiny fingers be positioned perpendicular to your upper arm, as illustrated?

Are your elbows flexible enough to bend?

Can you bend your knees beyond straight?

Can you touch the floor with your palms flat on the floor and your knees straight?

Let’s move toward Beighton Score  before diagnosis :

                                                                                                                                TOTAL:  9  / 9

Brighton’s requirements:

Major:

1. 04/9 score of Beighton is significant
2. Arthralgia in more than four joints that lasts more than three months

Minor :

1. A Beighton scale score of 1–3.
2. One to three joints have arthralgia.
3. Previous history of joint dislocation
4. The presence of more than three soft tissue lesions
5. Habitus resembling Marfan’s
6. Hyper-extensibility, or skin scarring
7. Signs of the eyes: laxity of the lids

Interpretation:

To make a diagnosis, 02 main criteria must be met or 01 major and 02 minor criteria or 04 minor criteria must be met.

The following are the diagnostic criteria for hypermobility syndrome:

• There are two important criteria.
• There is the presence of 01 major criteria and 02 minor criteria.
• Four secondary criteria
• 02 minor criteria that are unmistakably impacted a first-degree relative’s family history

Hypermobility Diagnose in the basis of Clinical Examination:

The diagnosis is made solely based on a clinical examination and family history. A medical practitioner conducts the clinical evaluation, which searches for the major and minor criteria necessary for diagnosis. Genetic and prenatal genetic analysis for TNXB transformations is offered on a limited basis, but only if the disease-causing mutation has been detected in a family member.

The primary diagnostic criteria are as follows:

• Hypermobility of joints
• Ability to bend your pinky finger backward towards your wrist (passive dorsiflexion) more than 90°
• Ability to push your thumb against your wrist (passive apposition)
• Possibility of placing palms on the ground with fully stretched legs
• Soft skin with normal or a little improved extensibility
• Absence of fragility or other major abnormalities of the skin or soft tissues(1)

Minor requirements include the following:

A progressive family history of hypermobility type Ehlers-Danlos syndrome (or a family history of joint laxity) suggesting autosomal dominant inheritance but no significant skin or soft tissue weakening.

• Persistent dislocations or subluxations of joints (restricted joint movement)
• Joint, limb, and/or back discomfort that persists.
• Irritable bowel syndrome (functional gastritis, irritable bowel syndrome)A fainting sensation caused by low blood pressure (neurally mediated hypotension) or an abnormally fast heart rate upon standing up (postural orthostatic tachycardia) that occurs after prolonged standing, being in a warm environment, shortly after exercise, eating a heavy meal, or in stressful conditions.(3)
• Too high or too thin a palate
• Dental crowding

If Beighton Score Is Negative Then Diagnosis of Hypermobility:

The Five-Point Checklist 6^th For nearly a decade, this questionnaire has been in use.

It can override a negative Beighton score if the physician believes the patient’s history indicates hypermobility throughout infancy and adolescence, even though the patient may have “stiffened up” in maturity. It is fair to infer that the patient has generalized joint hypermobility if the patient scores positive on any of the following instruments.(4)

• 1 Can you (or have you ever been able to) lay your big hand on the ground in a flat position without bending your knees?
• 2 Can you bend your thumb to touch your forearm now (or ever)?
• 3 Did you ever amuse your pals by performing contortions or the splits when you were a kid?
• 4 As a teenager or youthful, did your shoulder or kneecap displace more than once?
• 5thWould you describe yourself as “dual-jointed”?

Interpretation:

If the longsuffering patient answers “Yes” to two questions, this indicates global joint hypermobility with an 80% sensitivity and 80% specificity; the success rate increases with each additional “yes” response.

Key Role of Physical Examination in Diagnosis of Hypermobility:

The key to identifying hypermobility is to examine the youngster thoroughly for indications of widespread joint laxity. This is done via five simple clinical procedures that are no need of a special kit and may be accomplished by any general practitioner in 30Sec to 60Sec. Hypermobility may strike at any age, who shows similar symptoms. It’s worth noting that in individuals with hypermobility, joint laxity is nearly always symmetrical unless other musculoskeletal diseases restrict joint motion.(5)

Distinguish between Inherited connective Tissue illness And Hypermobility:

Furthermore, some people think that hyper-extension of all digits, not just the fifth, should be investigated as a physical sign of hypermobility. When evaluating a patient with widespread joint leniency, the differential diagnosis of hypermobility contains a wide range of inherited and developed diseases, and it is important to reflect each of these possibilities. It’s especially difficult to tell the difference between hypermobility syndrome and more severe connective tissue diseases. Asymptomatic hypermobility is also often discovered during routine physical exams, indicating the existence of an undiagnosed connective tissue disorder. As a consequence, doctors must differentiate between hypermobile children and hereditary connective tissue diseases.

Carter and Wilkinson create a test and improved this test in light of  Beighton score criteria for large-scale studies, which has become the most generally accepted technique for identifying widespread hypermobility. It has a strong relationship with more quantitative, instrument-based methods. Diseased people are graded on a nine-point scale, with one point given to each hypermobile region. The scores are then summed together to get a total score that is the “Beighton score.” Under the light of Beighton score of four or more points is usually taken to indicate widespread hypermobility.(6)

The British Society for Rheumatology has developed separate diagnostic criteria for hypermobility syndrome and heritable connective tissue diseases due to the considerable clinical overlap. These criteria include many less often related characteristics in addition to observations of widespread hypermobility and musculoskeletal complaints.

Laboratory Tests that Helps in Diagnosis of Hypermobility:

It is an excluding the diagnosis, even if hypermobility is a common ailment. Complete blood counts (CBCs), erythrocyte sedimentation rate (ESR), rheumatoid factor(R.A), the titer of the antinuclear antibody (ANA), and serum immune globulin and complement levels may help rule out more severe viral, inflammatory, and autoimmune diseases that manifest as painful or swollen joints. These tests are usually not recommended in children with hypermobility syndrome, and the findings are usually normal. Any abnormalities in these kinds of examinations, such as leukocytosis, and increased Erythrocyte sedimentation rate, or a high titer of ANA, point to a different diagnosis. The target of joint fluid shows a noninflammatory pattern in individuals with hypermobility who have joint effusion.(7)

References:

1. Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169c(1):6-22.
2. Pacey V, Tofts L, Wesley A, Collins F, Singh-Grewal D. Joint hypermobility syndrome: a review for clinicians. J Paediatr Child Health. 2015;51(4):373-80.
3. Raff ML, Byers PH. Joint hypermobility syndromes. Curr Opin Rheumatol. 1996;8(5):459-66.
4. Schlager A, Ahlqvist K, Pingel R, Nilsson-Wikmar L, Olsson CB, Kristiansson P. Validity of the self-reported five-part questionnaire as an assessment of generalized joint hypermobility in early pregnancy. BMC Musculoskelet Disord. 2020;21(1):514.
5. Simsek IE, Elvan A, Selmani M, Cakiroglu MA, Kirmizi M, Bayraktar BA, et al. Generalized hypermobility syndrome (GHS) alters dynamic plantar pressure characteristics. J Back Musculoskelet Rehabil. 2019;32(2):321-7.
6. Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr. 2017;29(6):640-9.
7. Tinkle BT. Symptomatic joint hypermobility. Best Pract Res Clin Rheumatol. 2020;34(3):101508.