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

• Published in: Orphanet journal of rare diseases Vol. 18; no. 1; pp. 1 - 354
• Main Authors: Lyster, Anne Lørup, Biørn, Signe Hedengran, Kjeldsen, Anette Drøhse, Nielsen, Christian, Lange, Bibi, Fialla, Annette Dam, Vinholt, Pernille Just
• Format: Journal Article
• Language: English
• Published: London BioMed Central 14.11.2023; BMC
• Subjects: Acids; Adenosine diphosphate; Anemia; Bleeding; Blood & organ donations; Blood platelets; Breastfeeding & lactation; Collagen; Epistaxis; Flow cytometry; Hemorrhage; Hereditary haemorrhagic telangiectasia; Iron; Medical research; PAC1 protein; Peptides; Plasma; Platelet aggregation; Platelet function; Primary haemostasis; Rare diseases; Thrombin; United States > US; Japan; Germany
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-023-02968-z

Abstract 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.