Is there a connection between thrombocytosis and Ehlers-Danlos syndrome (EDS)?

Connection Between Thrombocytosis and Ehlers-Danlos Syndrome (EDS)

There is no established direct connection between thrombocytosis and Ehlers-Danlos syndrome (EDS), but patients with EDS may experience both bleeding and thrombotic complications due to underlying vascular fragility and platelet function abnormalities.

Thrombotic and Bleeding Complications in EDS

• EDS patients have an increased risk of bleeding, with approximately 41.7% of patients demonstrating abnormal bleeding severity scores 1
• Paradoxically, thrombotic events can also occur in EDS patients, though they are considered rare manifestations 2
• In vascular EDS (Type IV), vascular fragility leads to increased risk of arterial rupture, dissection, and aneurysm formation rather than thrombosis 3
• Case reports document deep vein thrombosis in EDS patients, suggesting potential for thrombotic complications despite the more common bleeding tendency 4, 2

Platelet Function in EDS

• Platelet function abnormalities are present in 90% of EDS patients with bleeding tendencies and 78% of those without 1
• The risk of bleeding progressively increases with the number of platelet function abnormalities detected 1
• Abnormalities include:
  • Diminished response of platelet adenylate cyclase to prostaglandin D2 5
  • Increased baseline platelet production of thromboxane A2 5
  • Poor platelet aggregation in response to various agonists including thrombin, ADP, epinephrine, and collagen 5

Thrombocytosis in Clinical Context

• Thrombocytosis (platelet count >1,000 x 10^9/L) is associated with an immediate risk of major hemorrhage in essential thrombocythemia (ET) patients 5
• Interestingly, elevated platelet counts at diagnosis (>1,000 x 10^9/L) in ET patients are associated with a significantly lower rate of thrombosis 5
• This inverse relationship between extreme thrombocytosis and thrombotic risk may be relevant when evaluating EDS patients with elevated platelet counts 5

Management Considerations for EDS Patients

• For EDS patients with vascular complications:

  • Regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) is recommended 6, 7
  • Baseline imaging from head to pelvis should be performed to evaluate the entire aorta and branches 6, 7
  • Invasive diagnostic procedures should be avoided due to risk of fatal complications 6, 7

• For hypermobile EDS with gastrointestinal manifestations:

  • Treatment should focus on managing prominent GI symptoms 6, 7
  • Special diets may be considered with appropriate nutritional counseling 6
  • Opioid use for chronic pain management should be avoided 7

Monitoring Recommendations

• EDS patients with thrombocytosis should be monitored for:
  • Signs of bleeding, particularly in those with multiple platelet function abnormalities 1
  • Potential thrombotic events, especially in those with vascular EDS 4, 3
  • Development of arterial complications, which can occur even in classical EDS (4.5% of patients) 8

Clinical Implications

• A multidisciplinary approach involving hematology, vascular medicine, and genetics is essential for managing EDS patients with blood count abnormalities 6
• Genetic testing is recommended for definitive diagnosis of EDS subtypes, particularly for identification of causal variants in vascular EDS (COL3A1) 6, 7
• When thrombocytosis is present in an EDS patient, clinicians should consider both the increased bleeding risk from EDS and the potential complications related to the elevated platelet count 1, 2

While thrombocytosis itself is not a recognized feature of EDS, the complex interplay between connective tissue abnormalities, vascular fragility, and platelet dysfunction in EDS patients requires careful clinical assessment and individualized management strategies.