The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function

Orphanet J Rare Dis. 2023 Nov 14;18(1):354. doi: 10.1186/s13023-023-02968-z.


Background: Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in their bleeding tendency. The aim of the present study was to investigate whether HHT-patients with epistaxis have impaired platelet function.

Method: We conducted a case-control study based on a sample size calculation and included 22 HHT-patients (inclusion criteria: epistaxis severity score ≥ 4, no intake of medicine affecting platelet function the last 5 days, HHT-type 1 or 2, age ≥ 18 years) and 20 controls. We assessed the platelet function with standard haemostasis parameters, flow cytometry (platelet function and micro aggregation), rotational thromboelastometry and Platelet Function Analyzer 200.

Results: We found no significant difference in mean platelet volume and immature platelet fraction and no difference in platelet activation as measured by exposure of CD62P, CD63P and PAC1 binding. Nor did we find a significant difference in platelet aggregation response in HHT-patients compared with the control group for all agonists (thrombin receptor activating peptide, adenosine diphosphate and collagen-related peptide). The PFA-200 analysis was without difference between the two groups and thromboelastometry showed no impairment of global haemostasis.

Conclusion: Reduced platelet function is unlikely to contribute to the frequent and long bleeding episodes that HHT-patients suffer from. We propose that further studies should focus on whether patients with HHT have hypercoagulability.

Keywords: Bleeding; Hereditary haemorrhagic telangiectasia; Platelet function; Primary haemostasis.

MeSH terms

  • Adolescent
  • Case-Control Studies
  • Disease Susceptibility
  • Epistaxis
  • Humans
  • Telangiectasia, Hereditary Hemorrhagic*