(platelets dystrophy with bleeding tendency)

[MIM 153 670, 231 200]

Prevalence: 1/1.000.000. Usually autosomal recessive transmission. Constitutional platelet thrombocytopathy caused by a quantitative or functional lack ofthe platelets glycoprotein GPIb-IX-V membrane complex. This complex is in relation with the intraplatelet cytoskeleton (actin) and is the binding site for the von Willebrand factor at the surface of the platelets. The complete receptor has the following structure: (Iba Ibß IX) 2 - V. The genes coding for the subunits of this receptor are located on 17p12 (GPIbα),  22q11.2 (GPIbβ), 3q29 (GPV), and 3q21 (GPIX).

Severe diseases in homozygotes, mostly in case of a mutation of GPIbα, GPIbβ or GPIX; onset in early childhood: mucocutaneous bleeding, epistaxis, gingivorragies; thereafter, menorrhagia, gastrointestinal bleeding, post-traumatic or post-surgical bleeding. Prolonged bleeding time, moderate to severe thrombocytopenia (30.000 to 80.000/mL with large and abnormaly sized (round and very granular) platelets. 

Patients with velocardiofacial and Di George syndromes show similar platelet abnormalities: moderate thrombocytopenia  with large platelets without bleeding, in relation to a mutation of GPIbβ (22q11).

Anesthetic implications: 

check platelet count and bleeding time; be prepared for platelets transfusion.

If possible; avoid  nasal intubation and neuraxial regional blocks. Some patients develop antibodies against platelets: in those patients with antiplatelet antibodies, recombinant factor VIIa can be useful to treat severe hemorrhage.

References :

-         Pinto Da Costa N, Armari-Alla C, Plantaz D, Pagnier A.
Syndrome de Bernard-Soulier révélé par une thrombopénie sévère en période néonatale.
Arch Pédiatr 2003; 10: 983-5.

-        Kostopanagiotou G, Siafaka I, Sikiotis C, Smymiotis V. 
Anesthetic and perioperative management of a patient with Bernard Soulier syndrome. 
J Clin Anesth 2004; 16: 458-60.

-         Ozelo M C, Svirin P, Larina L. 
Use of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard–Soulier syndrome. 
Ann Hematol 2005; 84: 816-22

-         Franchini M. 
The use of recombinant activated factor VII in platelet disorders: a critical review of literature.
Blood Transf 2009; 7:24-9 

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018; 31: 160-7.

Updated: December 2020