[MIM 155 100]

Rare. Autosomal dominant transmission. Association of thrombocytopenia, large size platelet  (giant) and cytoplasmic inclusions in leukocytes. Mutation resulting in an anomaly of the MYH9 gene coding for the heavy chain of non-muscular myosin, a cytoplasmic protein expressed in various tissues. The visible cytoplasmic inclusions in leukocytes are stacks of this protein. Platelet function is normal and hemostasis disorders are rare.

Anesthetic implications:

if the diagnosis is certain (history of normal clotting, no involvement of other organs, confirmation by an expert), there is no special precautions to be taken even to perform a neuraxial block. Avoid aspirin and NSAIDS. In case of bleeding, thromboelastography is helpful to evaluate the respective impact of the blood platelets problem and those involving the coagulation cascade.

References : 

-        Fishman EB, Connors JM, Camann WR. 
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. 
Anesth Analg 2009; 108: 1603-5.

-        Kumemura M, Omae T, Kou K, Sasuraba S et al.
Anesthetic management without platelet transfusion of cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
J Anesth 2018; 32: 641-4.

Mise-à-jour : octobre 2018