Ehlers-Danlos syndrome hypermobility type

Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT)

Ehlers-Danlos syndrome hypermobility type, also known as EDS-HT or joint hypermobility syndrome (JHS), is a subtype of Ehlers-Danlos syndrome (EDS) characterized by generalized joint hypermobility and joint instability. This condition affects the connective tissue throughout the body, leading to various symptoms.

Key Features:

• Generalized joint hypermobility: Joints are excessively flexible, making it difficult to maintain proper posture or perform everyday activities.
• Joint instability: Joints are prone to subluxations (partial dislocations) and dislocations, which can cause pain and discomfort.
• Soft and hyperextensible skin: Skin is fragile and bruises easily due to the lack of collagen.
• Easy bruising: Bruises appear frequently due to the thinness and fragility of the skin.
• Dental crowding: Teeth may be crowded or have an unusual shape due to the abnormal growth of the jawbone.
• Abdominal hernias: Weak abdominal muscles can lead to hernias, which are protrusions of internal organs through weakened areas in the abdominal wall.
• Pelvic organ prolapse: Weakened pelvic floor muscles can cause organs such as the uterus or bladder to sag or prolapse.

Other Symptoms:

• Chronic pain and fatigue
• Dizziness and increased heart rate after standing up
• Abdominal cramping, bloating, loose stools, or constipation

Important Note: EDS-HT is now classified under the broader category of hypermobile Ehlers-Danlos syndrome (hEDS), which encompasses a range of symptoms and related conditions. The new classification system aims to provide a more accurate diagnosis and treatment plan for individuals affected by this condition.

References:

• Grammatico P, Padua L. Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. Am J Med Genet Part A. 2010;152A(9):2406–2408.
• Remvig L, Jensen DV, Ward RC. Epidemiology of general joint hypermobility and basis for clinical criteria to diagnose benign joint hypermobility syndrome. J Rheumatol. 2007;34(4):821-831.

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Ehlers-Danlos syndrome hypermobility type, also known as hEDS, is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain. The symptoms of hEDS can vary from person to person, but common signs include:

• Joint hypermobility: Joints that are excessively flexible or loose, affecting both large joints (elbows, knees) and small joints (fingers, toes).
• Soft, smooth skin: Skin that is slightly elastic and bruises easily.
• Chronic pain: Persistent pain in the joints, muscles, and other areas of the body.
• Joint instability: Joints that are prone to subluxations (partial dislocations) or dislocations.
• Soft tissue injury: Frequent injuries to the skin, muscles, and tendons.

Other symptoms associated with hEDS include:

• Abdominal hernias
• Pelvic organ prolapse
• Mitral valve prolapse
• Aortic root dilatation

It's worth noting that hEDS is a clinical diagnosis, meaning that there is no specific genetic test for the condition. Diagnosis is typically made based on a combination of physical examination findings, medical history, and family history.

References:

• [4] Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain.
• [9] If you have hypermobile EDS, common signs include unusual joint flexibility and slightly stretchy skin.
• [13] Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft ...
• [14] 1.Describe common signs and symptoms of hypermobility

Diagnostic Tests for Ehlers-Danlos Syndrome Hypermobility Type (hEDS)

Ehlers-Danlos syndrome hypermobility type (hEDS) is a genetic connective tissue disorder characterized by generalized joint hypermobility, joint instability, and soft and hyperextensible skin. Diagnosing hEDS can be challenging due to its varied symptoms and overlapping characteristics with other conditions.

Diagnostic Criteria

To diagnose hEDS, the following criteria must be met:

• Generalized joint hypermobility (Criterion 1)
• Systemic manifestations of a more generalized connective tissue disorder (Criterion 2)
• A family history of EDS or similar symptoms (Criterion 3)

Diagnostic Tests

While there is no specific laboratory test to diagnose hEDS, the following tests can be used to support the diagnosis:

• Beighton Scale: An assessment of hypermobility using a standardized scale to measure joint mobility.
• Abnormal scarring and skin testing: To determine the presence of soft and hyperextensible skin.
• Genetic testing: While not specific for hEDS, genetic testing can confirm the diagnosis in some cases. However, it is essential to note that genetic testing only finds about 50% of people with the condition (Source: [7]).

Other Diagnostic Tests

In addition to the above tests, other diagnostic procedures may be used to rule out alternative diagnoses and support the diagnosis of hEDS. These include:

• Imaging studies: To evaluate joint instability, soft tissue injuries, or other related conditions.
• Physical examination: A thorough physical examination by a qualified healthcare professional to assess symptoms and identify potential underlying causes.

Conclusion

Diagnosing Ehlers-Danlos syndrome hypermobility type (hEDS) requires a comprehensive evaluation of the patient's symptoms, medical history, and family history. While there is no specific laboratory test for hEDS, various diagnostic tests can be used to support the diagnosis. A qualified healthcare professional should be consulted for an accurate diagnosis and treatment plan.

References

• [1] Colombi M, Dordoni C, Chiarelli N, et al. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type compared to other heritable disorders.
• [7] The Ehlers-Danlos Society App; Healthcare Professionals Directory; Assessing Joint Hypermobility
• [11] HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) Study; hEDS & HSD Research: The Search for Causes and Diagnostic Tests

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissue in the body, leading to extremely flexible joints and skin that is highly elastic. The hypermobile type of EDS is characterized by joint instability, musculoskeletal pain, and gastrointestinal issues.

Medications Used to Treat EDS Hypermobile Type

While there is no cure for EDS, various medications can help manage symptoms and improve quality of life. Here are some common drug treatments used for EDS hypermobile type:

• Pain relief: Over-the-counter pain relievers such as acetaminophen (Tylenol) and ibuprofen (Advil, Motrin IB) can be effective in managing musculoskeletal pain [1].
• Muscle relaxants: Muscle relaxants like cyclobenzaprine and carisoprodol can help relieve muscle spasms and improve sleep quality [5].
• Anticonvulsants: Anticonvulsants such as gabapentin and pregabalin have been found to be effective in managing neuropathic pain, which is common in EDS patients [4].
• Beta-blockers: Beta-blockers like atenolol, metoprolol, and propranolol can help manage blood pressure fluctuations associated with EDS [3].
• Opioids: In severe cases of pain, opioids may be prescribed as a last resort. However, their use should be carefully managed due to the risk of dependence and addiction [5].

Other Treatment Modalities

In addition to medications, other treatment modalities such as physical therapy, occupational therapy, and cognitive behavioral therapy can also be beneficial in managing EDS symptoms.

It's essential to note that each individual with EDS is unique, and their response to medication may vary. A healthcare provider should work closely with the patient to develop a personalized treatment plan that takes into account their specific needs and medical history.

References:

[1] Over-the-counter pain relievers can be effective in managing musculoskeletal pain (Search result 1).

[3] Beta-blockers like atenolol, metoprolol, and propranolol can help manage blood pressure fluctuations associated with EDS (Search result 3).

[4] Anticonvulsants such as gabapentin and pregabalin have been found to be effective in managing neuropathic pain (Search result 4).

[5] Muscle relaxants like cyclobenzaprine and carisoprodol can help relieve muscle spasms, and opioids may be prescribed for severe pain (Search results 5).

Ehlers-Danlos syndrome hypermobility type (EDS-HT), also known as joint hypermobility syndrome, is a heritable connective tissue disorder that can be challenging to diagnose due to its protean nature. To establish an accurate diagnosis, it's essential to consider the differential diagnoses of EDS-HT.

Differential Diagnoses:

• Ehlers-Danlos classic type (EDS-classic): This is one of the most common types of EDS and shares similar clinical features with EDS-HT, including skin hyperelasticity and joint hypermobility.
• Vascular Ehlers-Danlos syndrome (VEDS): VEDS is characterized by fragile blood vessels and can present with similar symptoms to EDS-HT, such as easy bruising and bleeding.
• Kyphoscoliotic Ehlers-Danlos syndrome (kEDS): kEDS is a rare type of EDS that presents with joint hypermobility, skin hyperelasticity, and characteristic kyphoscoliosis.
• Osteogenesis imperfecta: This condition is characterized by fragile bones and can present with similar symptoms to EDS-HT, such as joint instability and easy bruising.
• Marfan syndrome: Marfan syndrome is a genetic disorder that affects the connective tissue in various parts of the body, including the heart, eyes, and joints. It can present with similar symptoms to EDS-HT, such as joint hypermobility and skin hyperelasticity.
• Loeys-Dietz syndrome: This is a rare genetic disorder that affects the connective tissue in various parts of the body, including the blood vessels, heart, and joints. It can present with similar symptoms to EDS-HT, such as joint hypermobility and easy bruising.

Diagnostic Considerations:

• Genetic testing: Genetic testing can be used to confirm the diagnosis for all but the hypermobile EDS (hEDS). The pathogenesis, clinical manifestations, and diagnostic criteria of each type of EDS should be carefully considered when interpreting genetic test results.
• Clinical evaluation: A thorough clinical evaluation is essential to establish an accurate diagnosis. This includes a detailed medical history, physical examination, and assessment of the patient's symptoms.

References:

• Colombi M, Dordoni C, Chiarelli N, Ritelli M. (2015). Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet Part C 169C:6–22.
• Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility.