Benign Hypermobility Syndrome Or What is Benign Famaile Hypermobility Disorder

 

Benign Hypermobility Syndrome or Benign Joint Hypermobility Syndrome (BJHS) is a genetic condition of the connective tissues/ligaments that causes joints to become loose throughout the body.  Although some level of hypermobility in youngsters is typical, persons with BJHS may have chronic laxity (loose ligaments), leading to long-term difficulties such as discomfort/pain and joint instability. BHJS may be a severely debilitating condition; physical therapists can assist patients who suffer from it in developing ways to enhance joint stability, reduce discomfort, and improve function.

How Does Benign Famaile Hypermobility Disorder Make You Feel?

Joint discomfort is the most common first symptom in BJHS patients. One or even more joints may be affected, and the symptoms may be generalized or symmetrical in their presentation. However, while any joint might be afflicted, the knees and ankles are the joints that are most usually impacted

Symptoms can appear at any age, with young children being the most frequently afflicted. Pain is frequently felt in several joints at the same time. While BJHS is often a self-limiting illness, the pain will remain in certain people and can progress to chronicity in other cases. A recent study showed that a substantial number of individuals who have been characterized by chronic pain also have widespread hypermobile joints.

Patients with BJHS are frequently more susceptible to overuse injuries than the general population. A personal history of being extremely active during the day may be present, which may suggest a mismatch between the cellular capacity and the amount of stress being imposed on the tissues. The ensuing overload can activate the nerve cells, resulting in an increase in discomfort as the day proceeds. As a result, patients may frequently complain of nighttime discomfort. These symptoms may be misinterpreted as “growing pains” in young children, which is common among these patients. The sense of muscular stiffness may also be prevalent in the evening for them.

There may also be other indications of connective tissue dysfunction present. These are some examples:

  • Thin skin
  • Scoliosis
  • Genu valgum
  • Rectal prolapse
  • Pes planus
  • Patellar dislocation
  • Lordosis
  • Varicose veins
  • Uterine prolapse
  • Marfanoid habitus

The relationship between BJHS and mitral valve prolapse has been the subject of significant debate in the medical community. Early studies suggested a link between MVP and BJHS; however, more recent research has been called into doubt.

Diagnosis

A clinical examination determines the diagnosis of BJHS, and it is an exclusionary diagnosis. If a patient presents with painful or creaky joints, it is important to rule out inflammatory and autoimmune reasons and infection before proceeding. Among the medical tests that may be performed to rule out these disorders are the total blood cell count, the ESR, the rheumatoid factor, the antinuclear antibody test, the serum complement (C4, C3, CH50) levels, and the serum immunoglobulin (IgM, IgG, and IgA) levels. A diagnosis other than BJHS is more likely if any of these test findings fall outside normal ranges.

Differentiating BJHS with other related genetic disorders (Differential Diagnosis)

Because BJHS has a lot of characteristics with other connective tissue illnesses such as Marfan Syndrome and Osteogenesis Imperfecta, it is important to rule out these ailments before proceeding. Key differentiating characteristics may be present to discriminate between these illnesses.

  • Ehlers–Danlos Syndrome (EDS)

EDS has a presentation that is quite similar to BJHS. EDS is a collection of illnesses that produce severe joint laxity as well as signs such as violet papyraceous scars, hyperelasticity of the skin, and fragile skin, which makes patients more prone to bruising and bleeding. Types I, II, and III of EDS are the most often encountered. BHJS and the hypermobility kind of EDS are difficult to differentiate apart, especially EDS Type III. In addition to joint discomfort and hypermobility, EDS Type III is characterized by minor extra-articular involvement and mild skin alterations that do not result in scarring. Due to this, it has been suggested that BJHS may really be a moderate variant of EDS – and that the two disorders are actually on a continuum rather than a spectrum. Both BJHS and EDS are genetic conditions that are caused by issues with the collagen fibers in the body.

  • Marfan Syndrome

It is a well-known genetic condition that affects the skin. Patients with Marfan’s syndrome are more likely than the general population to have a family history of the condition. Cardiac and visual abnormalities are often seen. Their physical characteristics are as follows: tall and slender build (marfanoid habitus), generalized joint hypermobility, lengthened fingers (arachnodactyly), myopia, and lens displacement.

  • Osteogenesis Imperfecta

Another condition characterized by a deficiency in collagen is Osteogenesis Imperfecta (OI). Many fractures and skeletal malformations occur in patients who have severe joint laxity, a faint blue sclera, and a fragile bone structure.

  • Juvenile Rheumatoid Arthritis

When a youngster presents with hypermobility and joint discomfort, it is important to investigate juvenile rheumatoid arthritis as a possibility. The start of arthritis, on the other hand, must commence before the age of 15 and will entail inflammation of one or more joints. Other rheumatic diseases may also be taken into consideration.

What Role Does a Physical Therapist Play?

Physical therapists play an important role in offering treatment ideas and exercises that help persons suffering from BHJS improve their strength and stability and function more effectively. Your physiotherapist will create a specific treatment plan for you based on the severity of your problem. Among your options for therapy are:

  • Manual Therapy: Given that pain is a typical complaint among people who suffer from this illness, your physiotherapist may utilize light hands-on treatments to alleviate your discomfort while also gently stimulating the neurotransmitters/nerves in your joints.

 

  • Orthotic inserts/Bracing: Depending on the severity of the injury, your physiotherapist may recommend ankle tape, a customized orthotic, or bracing to stabilize the joint and make it less prone to additional injury.

 

  • Muscle building and strengthening: Muscles also help maintain joints’ stability. Your physiotherapist will devise ways to increase the strength of important muscles that help stabilize the joints in your body.

Activities involving balance and proprioception: In collaboration with you, your physiotherapist may devise therapy options to help you regain your core stability.

Is it possible to prevent this BHJS?

Because BHJS contains a genetic component, there is no way to prevent the disorder from occurring. Although early identification and treatment of the illness (recognizing it in infancy and addressing it before symptoms manifest themselves) may improve an individual’s long-term well-being, it is not always possible.

Following a diagnosis, your physical therapist will collaborate with you to establish techniques that will assist you in better understanding and managing your condition, as well as managing your pain.

Conclusion

Benign joint hypermobility syndrome (BJHS) is a connective tissue illness characterized by hypermobility in which musculoskeletal symptoms manifest themselves in the absence of systemic rheumatologic disease. Patient education, activity adjustment, relaxing and strength exercises for the afflicted joint, and osteopathic manipulative therapy are some of the therapeutic approaches used to address this condition.

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