Connection Between Thrombocytosis and Ehlers-Danlos Syndrome (EDS)

Platelet Function Abnormalities

The Mayo Clinic Proceedings reports that EDS patients have platelet function abnormalities, including diminished response of platelet adenylate cyclase to prostaglandin D2, increased baseline platelet production of thromboxane A2, and poor platelet aggregation in response to various agonists 1

The National Comprehensive Cancer Network recommends that thrombocytosis (platelet count >1,000 x 10^9/L) is associated with an immediate risk of major hemorrhage in essential thrombocythemia (ET) patients, and elevated platelet counts at diagnosis (>1,000 x 10^9/L) in ET patients are associated with a significantly lower rate of thrombosis 2
The American Journal of Hematology suggests that this inverse relationship between extreme thrombocytosis and thrombotic risk may be relevant when evaluating EDS patients with elevated platelet counts 3

The American College of Medical Genetics and Genomics, as referenced in Praxis Medical Insights, recommends regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) for EDS patients with vascular complications, and baseline imaging from head to pelvis should be performed to evaluate the entire aorta and branches 4
The same guideline recommends that invasive diagnostic procedures should be avoided due to risk of fatal complications, and treatment for hypermobile EDS with gastrointestinal manifestations should focus on managing prominent GI symptoms, with special diets considered and opioid use for chronic pain management avoided 5

Praxis Medical Insights recommends a multidisciplinary approach involving hematology, vascular medicine, and genetics for managing EDS patients with blood count abnormalities, and genetic testing is recommended for definitive diagnosis of EDS subtypes 4
The same guideline suggests that genetic testing is particularly important for identification of causal variants in vascular EDS (COL3A1) 5