Ehlers Danlos and Hypermobility

HEDS syndrome, also known as Hypermobile Ehlers-Danlos syndrome, is an inherited connective tissue condition caused by defects in the collagen protein. While serious complications may occur, it is generally considered the least severe type of Ehlers-Danlos syndrome (EDS). Joint hypermobility, which affects both large (elbows, knees) and tiny (fingers, toes) joints; thick, smooth skin that is slightly elastic (stretchy) and easily bruises; and persistent musculoskeletal (muscle and bone) pain are all common symptoms. Although hEDS is thought to be a genetic disorder, the genetic cause is unclear because the gene(s) responsible have yet to be discovered. Autosomal dominant inheritance is the most common form of inheritance. The aim of treatment and management is to avoid severe complications and alleviate associated signs and symptoms.

Signs and Symptoms of Hypermobile Ehlers-Danlos syndrome

The following are some of the signs and symptoms of hypermobile Ehlers-Danlos syndrome:

  • Both wide (elbows, knees) and tiny (fingers, toes) joints are affected by joint hypermobility.
  • Joint dislocations and subluxations (partial dislocations) are common, with the elbow, kneecap, and temporomandibular joint being the most commonly affected (the joint that connects the lower jaw to the skull)
  • Skin that is soft, smooth, and slightly elastic (stretchy) but bruises easily
  • Musculoskeletal (muscle and bone) discomfort that is persistent
  • Osteoarthritis with a young-onset is present
  • Osteoporosis.
  • Dysmotility, bloating, nausea, vomiting, heartburn, constipation, or a hiatal hernia are all gastrointestinal problems (which can also cause issues such as heartburn or reflux)
  • Autonomic nervous system (ANS) dysfunction
  • Defects of the heart, such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
  • Women are more likely to experience pelvic prolapse, painful menstruation (dysmenorrhea), and painful intercourse (dyspareunia).
  • An increased risk of pregnancy complications, including premature rupture of membranes or fast labor and delivery (less than 4 hours)

Even though hypermobile Ehlers-Danlos syndrome is thought to be a hereditary disorder, the underlying cause (genetic effect) has yet to be discovered.

 

Inherited autosomal dominant pattern

Although the exact cause of hypermobile Ehlers-Danlos syndrome is unclear, it tends to be inherited in an autosomal dominant pattern. This means that all a person needs is a change (mutation) in one copy of the responsible gene in each cell to be affected. In some instances, an affected individual inherits the mutation from a parent who is also affected. New (de novo) mutations in the gene can cause other cases. These cases arise in individuals who have no family history of the disease. With each pregnancy, a person with hypermobile EDS has a 50% chance of passing on the mutated gene to his or her child.

Diagnosis of HEDS

Since there is no standardized examination for hypermobile Ehlers-Danlos syndrome (hEDS), it is diagnosed based on the appearance of specific signs and symptoms.

The three main requirements mentioned below must be met.

Criteria 1: The Beighton Score system and a questionnaire are used to determine generalized joint hypermobility (small and large joints).

Criteria 2: Two or more of the subsequent features (A&B, A&C, B&C, or A&B&C) must be present:

Feature A:

Systemic manifestations of generalized connective tissue disease (a total of 5 out of 11 must be present)

  1. Skin that is unusually soft or velvety.
  2. Mild hyperextensibility of the skin
  3. Heel piezogenic papules on both sides
  4. Numerous or recurrent abdominal hernias (e.g., umbilical, inguinal, crural)
  5. Atrophic scarring affecting at least two sites without the development of true papyraceous and hemosideric scars, as seen in classic EDS
  6. Pelvic floor, rectal, and uterine prolapse in girls, men, and nulliparous women who do not have a history of morbid obesity or any other documented predisposing medical condition
  7. Crowded teeth with a high or narrow palate
  8. Arachnodactyly, as defined by one or more of the following definitions: I On both sides, a positive wrist sign (Steinberg sign); (ii) on both sides, a positive thumb sign (Walker sign).
  9. The arm-to-height ratio of 1.05
  10. Moderate to severe mitral valve prolapse (MVP) based on strict echocardiographic guidelines
  11. Z-score > +2 aortic root dilatation

Feature B—a positive family history of hEDS, with one or more first-degree relatives meeting the current diagnostic criteria separately.

Feature C—musculoskeletal complications (at least one of the three):

  1. Musculoskeletal discomfort in two or more limbs that have been present for at least three months.
  2. Three months of chronic, widespread pain
  3. In the absence of trauma, recurrent joint dislocations, or open joint instability.

Criteria 3: No unusual skin fragility, exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions, and exclusion of alternative diagnoses that could involve joint hypermobility due to weak muscle tone (hypotonia) and connective tissue laxity must all be met.

Recurrent joint dislocations, persistent joint/limb pain, and good family history are examples of other issues that may or may not be present.

The fact that joint hypermobility is more common in females and young children can make diagnosing it more difficult.

Joint hypermobility can also decrease with age, especially with the onset of arthritis or following surgery. It’s important to remember whether there’s a history of joint laxity in these situations.

Several conditions can accompany hEDS, but there isn’t enough evidence to include them in the diagnostic criteria. They’re linked to hEDS, but they’re not known to be its product, and they’re not accurate enough to be used as diagnostic criteria. Sleep disturbances, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression are just a few symptoms. These disorders are far more debilitating than joint symptoms because they interfere with everyday life, and they should be taken into account and treated.

Treatment

The signs and symptoms of hypermobile Ehlers-Danlos syndrome are treated differently depending on the person. Physical therapy, for example, is often prescribed for strengthening muscles and increasing joint mobility. Depending on the degree of joint instability, assistive devices such as braces, wheelchairs, or scooters may be needed. To treat extreme musculoskeletal (muscle and bone) pain, pain killers can be administered. The occurrence of osteopenia (low bone density) and aortic root dilatation in affected people can be controlled (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)

If you have any concerns about your medical management plan, please contact your healthcare provider.

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