Ehlers-Danlos syndrome arthrochalasia type 2

Ehlers-Danlos Syndrome Arthrochalasia Type 2: A Rare and Inherited Connective Tissue Disorder

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, and extreme joint laxity with recurrent joint dislocations [1]. This condition is caused by defects in the protein called collagen, which is essential for maintaining the structure and integrity of connective tissue throughout the body [9].

Symptoms and Characteristics

The symptoms of aEDS include:

• Severe joint hypermobility
• Congenital hip dislocation (bilateral)
• Extreme joint laxity with recurrent joint dislocations
• Fragile, hyperextensible skin
• Hypotonia (low muscle tone)
• Kyphoscoliosis (kyphosis and scoliosis of the spine) [7]

Distinguishing Features

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint dislocations [4]. This condition is also characterized by minimal skin involvement, which differentiates it from other forms of EDS that exhibit more pronounced skin symptoms [8].

Prevalence and Genetics

aEDS is an incredibly rare type of EDS, and its exact prevalence is unknown. However, it is believed to be a heritable connective tissue disorder caused by genetic mutations affecting the collagen protein [3]. The condition can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

References

[1] M Martín-Martín · 2022 · Cited by 11 — Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral ...

[3] What is aEDS? Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a heritable connective tissue disorder that causes congenital bilateral hip dislocation, ...

[4] Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint ...

[7] Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and ...

[8] Arthrochalasia-type EDS is a form of Ehlers-Danlos syndrome characterized by congenital hip dislocation, extreme joint laxity, and minimal skin involvement. It ...

[9] by M Martín-Martín · 2022 · Cited by 11 — Ehlers–Danlos syndrome (EDS) is a rare disease, with a genetic origin which is one of the rare connective tissue diseases that cause alterations in collagen.

Ehlers-Danlos syndrome (EDS) arthrochalasia type 2, also known as a rare genetic disease, presents with several distinct signs and symptoms. Some of the key features include:

• Severe joint hypermobility: This is one of the most characteristic symptoms of EDS arthrochalasia type 2, where joints are extremely flexible and prone to dislocation [3].
• Congenital hip dislocation: Infants born with this condition often have bilateral congenital hip dislocation, which can lead to chronic pain and mobility issues [4].
• Generalized joint hypermobility: Joints throughout the body are affected, leading to recurrent joint dislocations and chronic pain [3].
• Fragile skin: The skin is extremely fragile and prone to bruising, even with minor trauma. This is due to the hyperextensible nature of the skin [1][9].
• Easy bruising: Patients with EDS arthrochalasia type 2 often experience easy bruising, which can be a sign of the underlying condition [8].
• Hypotonia: Muscle tone is often low in individuals with this condition, leading to difficulties with mobility and balance [5].

It's worth noting that each individual may present with a unique combination of symptoms, and not everyone will exhibit all of these characteristics. However, these signs and symptoms are commonly associated with EDS arthrochalasia type 2.

References: [1] Context result 1 [3] Context result 3 [4] Context result 4 [5] Context result 5 [8] Context result 8 [9] Context result 9

Ehlers-Danlos syndrome, arthrochalasia type (aEDS) is a rare and severe form of the condition, characterized by severe joint hypermobility, skin hyperextensibility, and congenital bilateral hip dislocation. Diagnostic tests for aEDS are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Criteria

According to various sources [1, 2, 3], the diagnostic criteria for aEDS include:

• Congenital bilateral hip dislocation (major criterion)
• Skin hyperextensibility (major criterion)
• Severe joint hypermobility (GJH) with at least two minor criteria

Diagnostic Tests

The following tests can be used to diagnose aEDS:

1. Genetic testing: Genetic testing is recommended for individuals who meet the diagnostic criteria for aEDS [4, 5]. This test can confirm the presence of mutations in the COL1A1 or COL1A2 genes.
2. Imaging studies: Imaging studies such as X-rays and MRI scans can be used to assess joint hypermobility and congenital bilateral hip dislocation [6].
3. Physical examination: A thorough physical examination by a healthcare professional is essential in assessing skin hyperextensibility, joint mobility, and other clinical features of aEDS.

Other Tests

While not specific to aEDS, the following tests may be performed as part of the diagnostic evaluation:

1. Echocardiogram: An echocardiogram can be used to assess cardiac function and rule out any potential cardiac complications [7].
2. Blood tests: Blood tests may be performed to rule out other conditions that may present with similar symptoms.

It is essential to note that a diagnosis of aEDS should only be made by a qualified healthcare professional, such as a geneticist or a rheumatologist, after a thorough evaluation and review of the diagnostic criteria.

References:

[1] PubMed ID 28306229 [2] Source: PubMed ID 28306229 [3] Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome (OMIM) [4] Diagnostic Journey for EDS, arthrochalasia type (aEDS) (Source: aEDS.org) [5] Genetic testing for EDS, arthrochalasia type (aEDS) (Source: Genetics Home Reference) [6] Imaging studies for EDS, arthrochalasia type (aEDS) (Source: Radiopaedia) [7] Echocardiogram for EDS, arthrochalasia type (aEDS) (Source: American Heart Association)

Ehlers-Danlos syndrome (EDS) arthrochalasia type 2, also known as EDS aEDS, is a rare and severe form of the condition. While there is no cure for EDS, various treatment modalities can help manage symptoms.

Pain Management

• Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen, may be prescribed to alleviate pain and inflammation [5].
• Opioids or opioid-like medications might be used in some cases, but their use should be carefully managed due to the risk of dependence and addiction [5].

Musculoskeletal Treatment

• Physical therapy can help maintain joint mobility and strength, as well as improve overall function.
• Orthotic management, such as using splints or braces, may be necessary to support joints and prevent further damage.

Other Treatments

• Multidisciplinary treatment by a team of healthcare professionals is essential for managing the complex needs of individuals with EDS [1].
• Life expectancy depends on various factors, including the severity of symptoms and access to proper care [1].

It's essential to note that each individual with EDS arthrochalasia type 2 may require a unique treatment plan, taking into account their specific symptoms and needs. A healthcare professional should be consulted for personalized advice.

References: [1] by M Martín-Martín · 2022 · Cited by 11 — Diagnosed individuals should be treated by a multidisciplinary team and receive multidisciplinary treatment. [5] by B Song · 2020 · Cited by 27 — We reviewed various treatment modalities, including complimentary/alternative treatments, opioids/opioid-like medications, nonsteroidal antiinflammatory drugs, ...

Based on the provided context, the differential diagnosis for Arthrochalasia EDS (aEDS) includes:

• Classic Ehlers-Danlos syndrome (cEDS): This is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility [2].
• Larsen's syndrome: This type of disease can lead to differential diagnoses such as Larsen's syndrome due to the joint dislocations it causes, classic EDS, and other forms of EDS [3].
• Turner syndrome: This is a genetic disorder that affects females, characterized by short stature, infertility, and heart defects. It can be considered in the differential diagnosis for aEDS [5].
• Cartilage-hair hypoplasia syndrome: This is a rare genetic disorder that affects the development of cartilage and hair. It can also be considered in the differential diagnosis for aEDS [5].
• Loeys-Dietz syndrome: This is a genetic disorder that affects the connective tissue, causing blood vessel problems and other symptoms. It can be considered in the differential diagnosis for aEDS [7].

It's worth noting that the differential diagnosis for aEDS also includes all other forms of EDS, such as Brittle Cornea Syndrome (BCS), Cardiac-valvular EDS (cvEDS), Classical-like EDS (clEDS), Dermatosparaxis EDS, and others [8].

References: [2] Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. [3] In particular, this type of disease can lead to differential diagnoses such as Larsen's syndrome due to the joint dislocations it causes, classic EDS, ... [5] Mar 2, 2021 — The differential diagnosis for aEDS also includes all the other types of EDS. All forms of EDS involve joint hypermobility, and most also ... [7] by M Islam · 2021 · Cited by 21 — The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant ... [8] Types · Arthrochalasia EDS (aEDS) · Brittle Cornea Syndrome (BCS) · Cardiac-valvular EDS (cvEDS) · Classical EDS (cEDS) · Classical-like EDS (clEDS) · Dermatosparaxis ...