|Year : 2017 | Volume
| Issue : 1 | Page : 59-62
Benign joint hypermobility syndrome: A case series
Rahul Bisaralli, Pranab Kanti Dutta, Alka Flora Marak, Santa Naorem
Department of General Medicine, RIMS, Imphal, Manipur, India
|Date of Web Publication||17-Jan-2017|
Department of General Medicine, RIMS, Imphal - 795 004, Manipur
Source of Support: None, Conflict of Interest: None
Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility, in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. It is an inherited connective tissue disorder and is different from other genetic connective tissue disorders such as Marfan's and Ehler-Danlos syndromes that also cause joint hypermobility and generalized joint laxity. We are reporting three cases of BJHS for the first time from Manipur, who presented with nonspecific symptoms and arthralgias.
Keywords: Arthralgia, benign joint hypermobility, Ehler-Danlos, Marfan′s, rheumatology
|How to cite this article:|
Bisaralli R, Dutta PK, Marak AF, Naorem S. Benign joint hypermobility syndrome: A case series. J Med Soc 2017;31:59-62
| Introduction|| |
Joint hypermobility was first described by Hippocrates in Scythian warriors. Historic literatures mention them to be tall, blond with blue eyes which points toward some collagen disorders that might have been prevalent in the tribe.  The entity remained unknown in modern medical literature until Kirk et al. called the attention for the first time.
Benign joint hypermobility syndrome (BJHS) is defined as the occurrence of musculoskeletal symptoms in the absence of systemic rheumatologic disease. This syndrome is thought to be an inherited connective tissue disorder.  The primary clinical manifestation of BJHS is hypermobility and pain in multiple joints. Hypermobility of the joints is also seen in Marfan's and Ehler-Danlos syndrome (EDS), hence the name "benign" to distinguish from the latter, particularly hypermobility type of EDS (Type III), which shares many features of BJHS and clinical manifestations may overlap. 
Thus, patients should be made aware of the potential sequelae of this condition such as acute ligament and soft tissue injury, joint instability, the possible increase in the risk of fractures, premature osteoarthritis, and more serious complications such as uterine and rectal prolapse. 
Diagnosis of BJHS is made on the basis of certain criteria known as the Brighton criteria. , which consist of the following:
- Beighton score of ≥4
- Arthralgia for longer than 3 months in four or more joints.
- Beighton score of 1, 2, and 3
- Arthralgia (>3-month duration) in one to three joints or back pain (>3-month duration) or spondylosis
- Three or more soft tissue lesions (epicondylitis, tenosynovitis, and bursitis)
- Marfanoid habitus
- Skin striae, hyperextensibility, thin skin, or abnormal scarring
- Ocular signs: Drooping eyelids, myopia, and antimongoloid slant
- Varicose veins, hernia, uterine or rectal prolapse
- Mitral valve prolapse.
Any one of the following cinches the diagnosis of BJHS:
- Two major criteria
- One major plus two minor criteria
- Four minor criteria
- Two minor and unequivocally affected first-degree relative.
Determining the Beighton's score is essential to establish the diagnostic criteria for BJHS. , It is a measure of generalized joint laxity, and the scores are calculated by five simple maneuvers as follows:
- Apposition of thumb to flexor aspect of the forearm, 1 point on each side
- Hyperextension of the knee beyond 90°, 1 point on each side
- Hyperextension of elbows beyond 90°, 1 point on each side
- Passive dorsiflexion of metacarpophalangeal joint to 90°, 1 point on each side
- Forward flexion with the hands flat on the floor and knees extended.
The highest possible score is 9. A score of 4 or more meets the Brighton major criteria for hypermobility.
| Case Reports|| |
A 24-year-old female, a resident of Moirang, Manipur, presented with the chief complaints of palpitations, weight loss, and decreased appetite for the past 1 year. The patient neither had any significant family history suggestive of joint hypermobility, Marfan's syndrome or any musculoskeletal symptoms, nor symptoms attributable to any systemic illness.
On clinical examination, the patient was asthenic inbuilt, with a height of 163 cm, weighing 39 kg, and body mass index (BMI) at 14.67. The findings were arm span - 172 cm (arm span > height), upper segment - 80 cm, and lower segment - 83 cm (upper segment: lower segment ratio of 0.96). The patient showed features of Marfanoid habitus (Steinberger sign and arachnodactyly) as shown in [Figure 1]. Skin and hair were normal. There was no ectopia lentis or joint contractures. Systemic examination showed no other abnormalities. Available laboratory testing also revealed nothing significant.
|Figure 1: (a) Marfanoid feature (Steinberger sign) (b) Marfanoid habitus (arachnodactyly; metacarpal index > 8.4)|
Click here to view
A 28-year-old female from Imphal, Manipur, presented with the complaints of burning sensation in the bilateral feet for 3 months, pain in bilateral shoulder joints, knees and elbow joints for 3 months, and recurrent oral ulcers for the last 1 year, with no other clinical history, suggestive of autoimmune phenomenon, or significant past and family history, suggestive of joint hypermobility and Marfan's syndrome.
On clinical examination, the patient was moderately built and nourished measuring 156 cm in height and weighing 54 kg (BMI - 22.19). The findings were arm span - 156 cm (height = arm span), upper segment - 77 cm, and lower segment - 78 cm (upper segment: lower segment ratio - 1). Skin and hair were normal. Hyper extension of the elbow was observed as shown in [Figure 2]. There was no ectopia lentis on normal systemic examination. Transthoracic echocardiographic findings were normal.
A 28-year-old female from Imphal, Manipur, presented with pain in bilateral knee joints and shoulder joints for the past 6 months, due to which her daily activities were disturbed. However, the pain did not have any diurnal variation, no associated redness and swelling of the joint, no stiffness in joint after prolonged sitting, and no significant history suggestive of an autoimmune phenomenon. There was no significant family history of joint hypermobility or a significant medical history in the past.
On clinical examination, she was moderately built and nourished, height - 147 cm, weight - 45 kg (BMI - 20.83), arm span - 149 cm (arm span > height), upper segment - 79 cm, and lower segment - 70 cm ( upper segment: lower segment ratio - 1.12). Skin and hair were normal. Apposition of the thumb was observed as shown in [Figure 3]. There was no ectopia lentis on normal systemic examination. Transthoracic echocardiography findings were normal.
All the patients had no evidence of rheumatological disease as evidenced by normal titers of antinuclear antibody-indirect fluorescent antibody and no musculoskeletal abnormality. Complete blood counts with erythrocyte sedimentation rate were within normal limits, and transthoracic echocardiography showed no evidence of any abnormality. In all the patients, ectopia lentis was ruled out by slit-lamp examination. The first patient had no signs and symptoms suggestive of joint problems, but during further examinations for marfanoid habitus, the possibility of Marfan's syndrome was explored, although genetic testing for FBN1 could not be done due to lack of facilities. However, she did not satisfy the criteria of the revised Ghent nosology  for Marfan's syndrome, and her features resembled those of patients with BJHS.
Thus, based on history, clinical examination, and laboratory tests, all the three patients were diagnosed as having BJHS. They were advised to consult physical medicine and rehabilitation specialists and are doing well till date.
| Discussion|| |
BJHS needs to be distinguished from other disorders that share many common features such as Marfan's syndrome, Ehler-Danlos, and osteogenesis imperfecta, as generalized joint hypermobility is a common feature in all these hereditary connective tissue disorders. 
EDS comprises a group of connective tissue disorders characterized by gross joint laxity. Disorders result due to defect in collagen synthesis, variable inheritance patterns, and most of the subtypes are inherited as autosomal dominant. Mutations in the gene involved in collagen synthesis cause the disease. About six types have been defined, of which I, II, and III are common, and BJHS is considered a milder variant of EDS III. ,
Marfan's syndrome is a connective tissue disorder that is genetically inherited as an autosomal dominant disease. The disease is characterized by defect in fibrillin - 1 gene mapped to 15q21.1 that encodes for a glycoprotein that forms a component of microfibrils which provide scaffolding for the deposition of elastin. Clinically, they are tall, thin, with long extremities and arachnodactyly, laxity of joint ligaments, spinal deformities, ectopia lentis, mitral valve prolapse, and aortic root dilation. ,
The 2010 Revised Ghent Nosology for Marfan syndrome  relies on seven rules as follows:
In the absence of family history:
Aortic root dilatation Z-score ≥2 AND ectopia lentis = Marfan syndrome - The presence of aortic root dilatation (Z-score ≥2 when standardized to age and body size) or dissection and ectopia lentis
Aortic root dilatation Z-score ≥2 AND FBN1 mutation = Marfan syndrome - The presence of aortic root dilatation (Z ≥2) or dissection and the identification of a bona fide FBN1 mutation, even in the absence of ectopia lentis
Aortic root dilatation Z-score ≥2 AND systemic score ≥7 points = Marfan syndrome - Where aortic root dilatation (Z ≥2) or dissection is present, but ectopia lentis is absent and the FBN1 status is either unknown or negative, a Marfan syndrome diagnosis is confirmed by the presence of sufficient systemic findings (≥7 points, according to a scoring system)
Ectopia lentis AND FBN1 with known aortic root dilatation = Marfan syndrome - In the presence of ectopia lentis, but the absence of aortic root dilatation/dissection, the identification of an FBN1 mutation previously associated with aortic disease is required before making the diagnosis of Marfan syndrome.
In the presence of family history:
Ectopia lentis AND family history of Marfan syndrome (as defined above) = Marfan syndrome
A systemic score of ≥7 points AND family history of Marfan syndrome (as defined above) = Marfan syndrome - A systemic score of ≥7 points and a family history of Marfan syndrome (as defined in rules 1-4 above) are sufficient for a diagnosis of Marfan syndrome
Aortic root dilatation Z-score of ≥2 above the age of 20 years and ≥3 below the age of 20 years) + family history of Marfan syndrome (as defined above) = Marfan syndrome - The presence of aortic root dilatation (Z ≥2 above the age of 20 years and ≥3 below the age of 20 years) and a family history of Marfan syndrome (as defined in 1-4 above) are sufficient for a diagnosis of Marfan syndrome.
| Conclusion|| |
People with BJHS have four times higher risk of suffering from anxiety, depression, and panic disorders than people without BJHS.  It lies in a continuum with EDS and may be its milder variant is closely related to Type III EDS. 
These cases were presented to highlight that BJHS may be detected in our day-to-day practice and can be diagnosed and managed properly. These patients may have some advantages in some of the careers such as gymnastics, but in the long run, they may have serious musculoskeletal sequelae such as recurrent joint dislocations and premature osteoarthritis. Hence, patients have to be made aware of these consequences. Effective treatment may be accomplished by advising proper body mechanics and, in turn, conferring the joint protection.
First and foremost, I thank God for his manifold blessings. My most sincere gratitude to Prof. Santa Naorem, Professor of Medicine and i/c Rheumatology Clinic, Department of General Medicine, RIMS, for his constant encouragement, support, and relentless faith in me during the entire process of preparation of this manuscript. I would also take this opportunity to thank Dr. Pranab Kanti Dutta, PGT, Department of General Medicine, RIMS, and Dr. Alka Flora Marak, PGT, Department of General Medicine, RIMS, for their valuable inputs and active participation throughout the process.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]