What are the typical blood work findings in Ehlers-Danlos Syndrome (EDS)?

From the Guidelines

There is no specific blood test that can diagnose all types of Ehlers-Danlos Syndrome (EDS), and diagnosis relies primarily on clinical evaluation of symptoms and physical examination. For most EDS types, bloodwork may be ordered as part of the diagnostic process to help rule out other conditions or to identify specific EDS subtypes.

Diagnostic Approach

• For vascular EDS, genetic testing of the COL3A1 gene from a blood sample can confirm diagnosis, as it involves demonstration of structurally abnormal collagen type III by fibroblasts or the identification of a mutation in the COL3A1 gene 1.
• For classical and hypermobile EDS, genetic testing may include analysis of COL5A1 and COL5A2 genes, although mutations within these genes are not specific and can be found in patients with other EDS types 1.

Additional Blood Tests

• Inflammatory markers (ESR, CRP) to rule out inflammatory conditions
• Complete blood count to check for anemia or platelet abnormalities
• Metabolic panels to assess organ function
• Vitamin D levels, as deficiency is common in EDS patients
• Specialized tests like serum copper and ceruloplasmin might be ordered to exclude related connective tissue disorders

Interpretation of Results

These tests help create a comprehensive picture but should be interpreted by specialists familiar with EDS, as the condition remains primarily a clinical diagnosis for many subtypes, especially hypermobile EDS which currently has no confirmatory genetic test 1.

From the Research

Ehlers-Danlos Syndrome Blood Workup

• Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that can affect various parts of the body, including the skin, joints, blood vessels, and internal organs 2.
• The diagnosis of EDS is based on a combination of clinical evaluation, family history, and genetic testing 2.
• There are several subtypes of EDS, each with distinct clinical features and genetic causes 3, 4.
• Classic EDS is characterized by fragile, hyperextensible skin and joint laxity, and is often caused by mutations in the COL5A1 or COL5A2 genes 4, 5.
• Vascular EDS is a more severe subtype that is characterized by fragile blood vessels and a high risk of catastrophic vascular events, and is often caused by mutations in the COL3A1 gene 3.

Genetic Testing for EDS

• Genetic testing can be used to confirm the diagnosis of EDS and to identify the specific subtype and genetic cause 2.
• The most common genes associated with EDS are COL5A1 and COL5A2, which encode the pro-alpha1 and pro-alpha2 chains of type V collagen, respectively 4, 5.
• Mutations in these genes can lead to a range of clinical features, including skin hyperextensibility, joint hypermobility, and vascular fragility 4, 5.
• Other genes, such as COL3A1, may also be involved in the development of EDS, particularly in the vascular subtype 3.

Blood Workup for EDS

• There is no specific blood test that can diagnose EDS, but genetic testing can be used to identify mutations in the genes associated with the condition 2.
• Blood workup may include tests to rule out other conditions that may have similar clinical features, such as rheumatoid arthritis or lupus 2.
• In some cases, blood tests may be used to monitor for complications of EDS, such as anemia or bleeding disorders 2.
• However, the diagnosis of EDS is primarily based on clinical evaluation and genetic testing, rather than blood workup alone 2.