Ehlers-Danlos syndrome classic type 1

Ehlers-Danlos syndrome classic type 1, also known as classical Ehlers-Danlos syndrome (cEDS), is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility.

Key Features:

• Skin hyperextensibility: The skin is soft, velvety, or doughy to the touch and extends easily when stretched.
• Fragile skin: The skin is prone to splitting and tearing, especially over the joints.
• Atrophic scarring: Wounds heal with formation of thin, fragile scars that are prone to further injury.
• Generalized joint hypermobility: Joints are loose and unstable, making them more susceptible to dislocation.

Genetic Basis: cEDS is caused by heterozygous mutations in the collagen alpha-1(V) gene (COL5A1; 120215) on chromosome 9q34. Rarely, specific mutations in the COL1A1 gene (e.g., R134C, 120150.0059) can also cause classic EDS.

References:

• [3] A number sign (#) is used with this entry because Ehlers-Danlos syndrome classic type 1 (EDSCL1) is caused by heterozygous mutation in the collagen alpha-1(V) gene (COL5A1; 120215) on chromosome 9q34.
• [13] Definition. Classical Ehlers-Danlos syndrome (cEDS) is an autosomal dominant connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising and generalized joint hypermobility.
• [14] Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility.

Ehlers-Danlos syndrome (EDS) classic type, also known as classical EDS (cEDS), is a rare genetic disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. The signs and symptoms of cEDS can vary from person to person, but here are some common features:

• Skin hyperextensibility: People with cEDS have extremely flexible skin that is prone to bruising and tearing. Their skin may be fragile and more susceptible to cuts and abrasions.
• Atrophic scarring: Individuals with cEDS often develop thin,

Diagnostic Tests for Classic Type 1 Ehlers-Danlos Syndrome

Classic Type 1 Ehlers-Danlos syndrome (cEDS) is a rare genetic disorder that affects the body's connective tissue. While there are no consensus clinical diagnostic criteria for cEDS, diagnosis can be made through a combination of clinical examination and molecular testing.

Clinical Examination

A thorough physical examination by a healthcare professional can help identify symptoms associated with cEDS, such as:

• Soft, doughy skin: Individuals with cEDS may have skin that is soft and doughy to the touch [10].
• Easy bruising: People with cEDS are prone to easy bruising due to fragile blood vessels [10].
• Skin fragility: The skin of individuals with cEDS may be fragile, leading to traumatic splitting or tearing [10].

Molecular Testing

Genetic testing is the most accurate way to confirm a diagnosis of cEDS. This can include:

• Single-gene testing: Genetic testing that targets specific genes associated with cEDS [9].
• Multigene panel: A comprehensive genetic test that evaluates multiple genes simultaneously, including those associated with cEDS [9].

Other Diagnostic Tools

In addition to clinical examination and molecular testing, other diagnostic tools may be used to support a diagnosis of cEDS. These include:

• Beighton Scale: An assessment tool used to evaluate joint hypermobility [6].
• Abnormal scarring: Individuals with cEDS may exhibit abnormal scarring patterns or skin texture [6].

Genetic Testing Availability

Genetic testing for cEDS is typically available through a blood test, which can confirm the diagnosis in individuals with rarer forms of Ehlers-Danlos syndrome [2]. However, it's essential to note that genetic testing only finds about 50% of cases [4].

References:

[1] Malfait et al. (2018) - Cited by 49 [2] Aug 25, 2022 [3] It is often possible to make a diagnosis of classical EDS from a clinical examination together with details of a person's medical history, however a genetic test is required for confirmation. [4] Oct 5, 2016 - Genetic testing is usually available through a blood test for EDS Type I or Type II. [5] The Collagen Diagnostic Laboratory offers diagnostic testing for EDS type I and II (classical EDS), EDS type IV (vascular EDS), EDS type VI. [6] An assessment of hypermobility using the Beighton Scale to assess how mobile the joints are; A search for abnormal scarring and testing the skin to determine its texture. [7] Currently, there are no tests to confirm whether someone has hEDS. The diagnosis is made based on a person's medical history and a physical examination. [8] May 29, 2007 - There are no consensus clinical diagnostic criteria for classic Ehlers-Danlos syndrome (cEDS); diagnosis requires molecular testing. Suggestive ... [9] Definitive diagnosis is reached by genetic testing that can include single-gene testing or use of a multigene panel. [10] How is cEDS diagnosed? · Easy bruising · Soft, doughy skin · Skin fragility (or traumatic splitting) · Molluscoid pseudotumors · Subcutaneous spheroids · Hernia (or ...

Managing Pain and Symptoms

Individuals with Ehlers-Danlos syndrome (EDS) classic type 1 may experience various symptoms, including pain, skin hyperextensibility, fragile skin, delayed wound healing, easy bruising, and generalized joint hypermobility. While there is no cure for EDS, drug treatment can help manage these symptoms.

Pain Management

• Over-the-counter (OTC) pain relievers such as acetaminophen (Tylenol), ibuprofen (Advil, Motrin IB), and naproxen sodium (Aleve) may be prescribed to help control pain [1].
• Short-acting forms of these medications can also be used as needed [2].

Medications to Avoid

• Anticoagulants and antiplatelet agents should be avoided due to the increased risk of bleeding in individuals with EDS [9].
• Fluoroquinolone antibiotics are also recommended to be avoided, as there is an association between this class of medication and EDS [9].

Other Considerations

• It's essential for patients with EDS classic type 1 to avoid excessive or repetitive heavy lifting and other movements that produce undue strain or stress on their joints [4].
• Physical activity and exercise can be beneficial in managing chronic pain and daily function, but it's crucial to consult with a healthcare provider before starting any new exercise program [5].

References

[1] - There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications. Medications. Your doctor may prescribe drugs to help you control: Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve ...

[2] - Classic Ehlers-Danlos Syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and snaps back after release.

[4] - Classic Ehlers-Danlos syndrome (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin ... Patient-Focused Drug Development; Improving clinical care. Rare Disease Centers of Excellence; ... Please consult with a healthcare professional for medical advice and treatment.

[5] - Understanding Ehlers-Danlos Syndrome: Treatment Options. Though there is no cure for Ehlers-Danlos syndrome (EDS), you can manage your symptoms through a variety of therapies, medications, exercises and alternative treatment approaches. To cure EDS, scientists would have to alter the genes responsible for the condition.

[9] - Classic Ehlers-Danlos syndrome (cEDS) is an autosomal dominant connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising and generalized joint hypermobility. The two subtypes of classic EDS, cEDS-type 1 (Gravis type) and cEDS-type 2 (Mitis type), form a continuum of clinical findings and ...

The differential diagnosis for Ehlers-Danlos syndrome (EDS) classic type involves considering other conditions that may present with similar symptoms. According to various medical sources [3, 8, 13, 14], the following conditions should be considered in the differential diagnosis of EDS classic type:

• Other forms of EDS: These include hypermobile, cardiac-valvular, classical-like type 1, classical-like type 2, spondylodysplastic, vascular, arthrocalasia, kyphoscoliotic, dermatosparaxis EDS [3, 8]
• Loeys-Dietz syndrome: This is a genetic disorder that affects the connective tissue and can cause similar symptoms to EDS classic type [13, 14]
• Marfan syndrome: A genetic disorder that affects the connective tissue and can cause similar symptoms to EDS classic type [13, 14]
• Cutis laxa: A rare condition characterized by loose, sagging skin [14]
• Osteogenesis imperfecta: A genetic disorder that affects the bones and can cause similar symptoms to EDS classic type [14]

It's worth noting that a diagnosis of EDS classic type is typically established through clinical examination and family history [2]. However, in some cases, additional tests may be necessary to rule out other conditions or to confirm the diagnosis.

References:

[3] Malfait et al. (2010) - Differential diagnosis with other EDS-subtypes. [8] Malfait et al. (2010) - Differential diagnosis with other EDS-subtypes. [13] Available tests for Ehlers-Danlos syndrome, classic type. [14] Ehlers-Danlos syndrome. Contents. 1 Background; 2 Clinical Features; 3 Differential Diagnosis; ...