Background

Hypermobility disorders like Ehlers-Danlos Syndrome (EDS) are a rare type of connective tissue diseases. EDS involves a variety of sub-types with “hypermobility type” being the dominant one. Although EDS hypermobility type is most prevalent, it’s usually less acute than the other sub-types. Ehlers-Danlos Syndrome ( hypermobility type) is characterized by signs and symptoms similar to joint hypermobility. Muscular, integumentary, and skeletal problems are common.

EDS involves hypermobility in joints of elbows, knees, toes, fingers, skin problems, easy bruising of the skin, long-term pain in muscles and bones that are non-responsive to regular pain killers. The exact gene(s) behind EDS are not found yet. Delays in diagnosis and incorrect diagnosis often results in permanent disabilities among patients due to regular joint dislocations.

Cause

The exact cause is still unconfirmed. Ehlers-Danlos Syndrome is regarded as a genetic problem. Its exact mechanism of transfer is not defined but is considered to be autosomal.

Diagnosis

EDS is often misdiagnosed with other connective tissue problems like Marfan syndrome. Brighton’s criteria is the standard in diagnosing Ehlers-Danlos hypermobility syndrome. Major criteria involve a Brighton score of 4 out of 9 and arthralgia comprising of more than 3 months in more than 4 joints. Since it is a genetic problem, its diagnosis is very difficult because the exact culprit gene(s) are yet unidentified.

Ehlers-Danlos syndrome, hypermobile type is a connective tissue disorder that affects approximately 1 in 5.000 people. This is a video explaining the most important characteristics of this condition.

Ehlers-Danlos Symptoms and Risk Factors

Chronic pain is the most prominent symptom of Ehlers Danlos syndrome. Pain can prolong from 15 days up to many years. Fatigue and associated sleep problems are common in EDS patients. Long-term pain in muscles (myalgia) and bones (arthralgia) are common. Ehlers Danlos syndrome is often confused with chronic fatigue syndrome, depression, and hypochondriasis (being worried about having a life-threatening disease).

Bone and Joint problems

Regular dislocations/partial dislocations of joints; glenohumeral joint (shoulder), patella (kneecap), temporomandibular joint (between the lower jaw and skull). Hypermobility in joints of elbows, knees, toes, discoloration around the hands, feet, facial region, tendon inflammation, and osteoporosis are prevalent.

Gynecological Problems

Dysmenhorria (more than usual pain during menstruation) and menorrhagia (unusually high uterine bleeding) menometrorrhagia (abnormal bleeding with irregular menstruation cycles) are found in EDS patients. Pelvic prolapse, uterine prolapse (40%) and dyspareunia (intercourse pain) also occur in up to 57 % of women due to decreased vaginal fluid secretions and increased vaginal membrane tears.

Gastrointestinal Problems

Decreased motility of the digestive tract, vomiting, nausea, constipation, inflammatory bowel syndrome, inflammation of the gastric lining, hyperacidity, and heartburn (Hiatal hernia can also occur leading to GERD-gastro oesophageal reflux disorder that affects 57% of EDS patients), increased satiety and increased gastric emptying time are common gastric problems in EDS

Urological Problems

In children with EDS; decreased gastric mobility, constipation, and fecal soiling are more prevalent in boys while in girls, urinary insufficiency and urinary tract infections are dominant. Urinary incontinence in females is concerned with the decreased stability of pelvic floor muscles that can also lead to bladder prolapse. Rectal prolapse can also occur in EDS patients. Fecal incontinence can occur more frequently in females than in males. Rare cases can result in prolapse of kidney, liver, heart and ovaries among EDS patients.

Heart/Cardiovascular Problems

Problems like prolapse of the mitral valve or dilatation of aortic base, mitral regurgitation, Reynaud phenomenon, pain in chest and unconsciousness are commonly present. Later studies suggest that mitral valve prolapse is concerned with autonomic system malfunctioning.

Ocular Problems

Nearsightedness or myopia affects half of the Ehlers-Danlos hypermobility patients. Misaligned eyes (strabismus) affects 7% of EDS patients (paeds group). Size and shape abnormalities in muscles controlling eye movements are also reported among patients with Ehlers-Danlos hypermobility syndrome.

Pregnancy Problems

Pregnancy risks factors like premature membrane rupture and/or early labor and delivery comprising not more than 4 hours are common in Ehlers-Danlos syndrome patients. The varicose veins become prominent around the vulva and legs of pregnant women with EDS. Usually, pregnancy is conceived normally in EDS patients and problems are minimal but pain during pregnancy, pelvic pain, instability and looseness of limbs may become pronounced that require the application of belts. Doctors often prescribe bed rest in pregnant women with EDS.

Post-partum hemorrhage can affect 19% of pregnant EDS patients. Other symptoms like dysautonomia; lightheadedness, dizziness and shortness of breath can aggravate in pregnant women with Ehlers-Danlos hypermobility syndrome. Premature birth can also occur if the mother or her conceived child has Ehlers-Danlos syndrome.

Neurological Problems

Chronic recurrent headaches affect most of the children with Ehlers-Danlos syndrome. Pain in neck muscles and jaw pain can also occur.

Dysautonomia associated headaches involve lightheadedness, faintness and dizziness can occur in 88% EDS patients. In 50% of EDS patients, local anesthesia shows resistance in action.

Problems in gait and imbalanced body lead to frequent falls among EDS patients. Impaired proprioceptive acuity results can affect muscle strength.

Impaired proprioceptive acuity is thought to influence muscle strength.

In rare cases Ehlers-Danlos hypermobility syndrome can be associated with the occurrence of tethered cord syndrome and craniocervical instability is also associated with EDS.

Psychiatric Problems

Kinesiophobia is a type of fear that prevents the victim from movement due to psychiatric thinking that he may fall. Most of the EDS patients have this phobia due to frequent joint dislocations. This phobia can aggravate permanent joint dysfunction that can lead to disability. Ehlers-Danlos syndrome patients are more liable to depression and anxiety that can aggravate pain.

Ehlers-Danlos Treatment Strategies

Ehlers-Danlos Syndrome is a multisystemic disease that affects various body systems and required planned multidisciplinary care. Cardiovascular monitoring of the patient is necessary with again checkup at least after 2-5 years. Patients should consult an orthopedic surgeon for joint health after regularly after 1 year. A gastroenterologist can help in case of gastric problems associated with EDS.

In the case of temporomandibular joint problems, patients should visit an oral and maxillofacial physician. Ocular problems associated with Ehlers-Danlos syndrome can be managed by compliance with an ophthalmologist. In the case of pregnancy and urological problems, urogynecologist should be consulted. Persistent headaches should be reported to a physician.

In case of reactions caused by drugs or food allergies, allergological consultation is necessary. Autonomic system problems like POTS can be managed by consultation with an expert physician. Cognitive and proprioceptive problems can be managed by regular sessions at physiotherapist and hydrotherapist. Ehlers-Danlos syndrome patients must receive proper nutrition according to the doctors and dietitians guidelines.

Conclusion

Ehlers–Danlos hypermobility syndrome is a rare genetic disorder with the involvement of multiple systems of the body. Its main target is connective tissues that are present all over the body. That’s why it affects multiple systems. Its exact cause is still under study. Chronic pain is the major drawback of this disease and our main target is to effectively manage the pain in EDS patients. Simultaneous management of multiple problems in various organs systems in Ehlers-Danlos is in best regard of the patient encouraging a better quality of life.

REFERENCE:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101008/