Familial Joint Instability Syndrome - Cause, Symptoms, and Management

Introduction

Familial joint instability syndrome is a rare genetic disease, the prevalence of which is unknown. Familial joint instability syndrome was formerly known as Ehlers-Danlos syndrome, type 11. Other names for familial joint instability syndrome include familial joint laxity, joint instability syndrome, and articular hypermobility syndrome.

What Is Familial Joint Instability Syndrome?

Familial joint instability syndrome is a genetic disease that affects the connective tissues causing generalized joint laxity, which results in recurrent dislocation of major joints. People with this syndrome have more flexible joints than usual and may also have chronic joint pain and instability. Commonly affected joints include hips, shoulders, elbows, or knees.

What Causes Familial Joint Instability Syndrome?

The exact cause of this syndrome is still unknown. The reason is found to be genetic and is associated with changes in genetic material. The genes that are involved in the development of collagen are the ones that are believed to be mutated in this syndrome.

Familial joint instability syndrome is found to come under an autosomal dominant inheritance pattern. The individual affected has one mutated copy and one normal gene copy. The children of any affected individual have a 50 percent chance of inheriting the syndrome.

What Is the Prevalence of Familial Joint Instability Syndrome?

Familial joint instability syndrome is seen in many families and is known to affect both males and females equally. It can occur in individuals belonging to all ethnic groups and races. An important predisposing factor for this syndrome includes a positive family history which means there are affected individuals present in the family. This syndrome does not have any other known risk factors.

What Are the Symptoms of Familial Joint Instability Syndrome?

Symptoms may start appearing at different ages in individuals affected by this syndrome. There are various symptoms associated with familial joint instability syndrome, and the number and severity of it differ among affected individuals.

Common Symptoms

• Joint hyper flexibility - increased mobility and flexibility of the joints, which can lead to complications like pain, joint instability, and dislocations.

• Congenital hip dislocation (hips that are dislocated since birth).

• Dislocation of the patella (kneecap)

• Chronic muscle and joint pain is a common symptom that can sometimes be severe.

Less Common Symptoms.

• Abnormality of bones - some abnormalities, like abnormal morphology of the femur, abnormality of the elbow joint, and abnormality of the knee joint and surrounding structures, are commonly associated with familial joint instability syndrome.

• Shoulder dislocation.

• Inguinal hernia.

• Fatigue and weakness.

• Bladder and bowel problems like irritable bowel syndrome.

How Is Familial Joint Instability Syndrome Diagnosed?

• Familial joint instability syndrome is diagnosed using a combination of clinical examination, family history, and other tests to rule out similar conditions.

• The patient is assessed for signs and symptoms of joint hypermobility during the clinical examination. A thorough medical history evaluation and a complete physical examination are done. Family history of the syndrome or other connective tissue disorders is also determined.

• Laboratory tests, biopsy, and imaging studies are done if necessary.

• To eliminate other conditions that can cause joint hypermobility, such as Marfan syndrome or Ehlers-Danlos syndrome, imaging tests such as X-rays or genetic testing are done to look for specific gene mutations associated with these conditions.

• There is no definitive test for familial joint instability syndrome, and the diagnosis is often based on clinical findings and other tests.

How Is Familial Joint Instability Syndrome Managed?

Familial joint instability syndrome cannot be cured. The treatment mainly aims to manage the signs and symptoms and prevent further complications. Some treatment strategies that can help manage the condition include the following.

• Physiotherapy can help by strengthening muscles around the joints, improving joint stability, and reducing the risk of joint dislocations.

• Pain can be managed by using pain medications that the doctor prescribes. Massage and heat therapy can also help alleviate the pain.

• Joint protection can be done by avoiding activities that strain the joints excessively.

• Braces or other assistive devices can help support the affected joints and reduce the risk of injury.

• Psychological support - Living with chronic pain and other symptoms can be challenging; therefore, counseling or support groups may be helpful for the emotional impact of the condition on the affected individual.

• Lifestyle changes - Certain lifestyle modifications can help improve the affected individual's overall health.

  1. Maintaining a healthy weight can help reduce the risk of symptoms worsening. Excessive weight puts additional strain on the joints, increasing joint pain and other complications.

  2. Exercising regularly can help strengthen the muscles around the joints, improving joint stability.

  3. Maintaining a good posture can always reduce joint strain and improve joint stability.

  4. Wearing good arch-support shoes.

  5. Taking warm baths that can ease joint pain and stiffness.

  6. Avoiding extreme ranges of motion or overextending the joints.

• Diet changes - Eating a healthy diet is essential for improving the affected individual's overall health. Joint hypermobility syndrome is often found to be associated with gastrointestinal problems like irritable bowel syndrome. Therefore doctors may suggest an exclusion diet test to check for intolerance to certain foods. The exclusion diets that are commonly followed are listed below.

  1. Gluten-free diet in which gluten is removed from the diet to check for a gluten allergy.

  2. Low-FODMAP diet in which five sugars, namely fermentable oligosaccharides, disaccharides, monosaccharides, and polyols, are removed from the diet.

  3. Lactose-free diet is followed when the patient is intolerant to dairy products.

Can Familial Joint Instability Syndrome Be Prevented?

• There is no prevention technique for this syndrome, as it is a genetic disorder and runs in families.

• Genetic counseling can be given to the affected individuals and their families if there is a family history of the condition.

• Genetic counseling helps the patients understand the condition's basis, inheritance patterns, and the risks of passing the condition to future generations.

• Genetic counseling can give individuals and families the information and support they need to make informed decisions about their health and family planning.

Conclusion

Familial joint instability syndrome is a rare genetic disorder that may be mild to severe among affected individuals. Symptoms can be managed with pain medications and physiotherapy in most cases. Eating a balanced diet and maintaining healthy body weight by regularly exercising can help greatly manage this syndrome.