[MIM 600 208]

(hereditary macrothrombocytopathies, constitutional thrombocytopenia with macroplatelets)

Estimated incidence: 1-9/106. Group of 5 hematological diseases (autosomal dominant transmission but 40 % of cases are de novo mutations) representing the allelic variants of mutations of the MYH9 (myosin heavy chain 9,  gene (22q12-13) coding for the nonmuscle myosin heavy chain, a cytoplasmic protein expressed in various tissues). They have a similar phenotype the common biological character of which is the existence of macrocytic thrombocytopenia  with a decrease in platelet aggregation which produces a variable hemorrhagic tendency and a risk of evolution towards severe renal failure. In case of renal impairment, proteinuria appears in childhood.

They are 5 clinical forms:

-        Sebastian syndrome: macrothrombocytopenia with cytoplasmic inclusions in leucocytes; rare and discrete hemorrhagic manifestations (purpura, epistaxis, menorrhagia, bruises); a platelet transfusion may be necessary in case of surgery;

-        Fechtner syndrome: severe macrothombopenia with cytoplasmic inclusions often associated with renal impairment (interstitial glomerulonephritis), high-frequency sensorineural hearing loss and cataracts (occasionally bilateral); rare and minor hemorrhagic manifestations;

-        Epstein syndrome: clinical picture close to Fechtner syndrome with interstitial glomerulonephritis and sensorineural deafness associated with thrombocytopenia, but without cataracts; absence of inclusions in leukocytes; most often, absence of bleeding  (but a platelet transfusion may be recommended in case of surgical intervention); the treatment of the nephropathy depends on the degree of renal impairment;

-        thrombocytopenia or May-Hegglin anomaly (see this topic) [MIM 155 100]

-        Alport-like syndrome with macrothrombocytopenia, difficult to differentiate from Epstein syndrome.

Treatment:        transfusion of HLA compatible blood platelets in case of bleeding (rare); prophylactic treatment with thrombopoietin  for 2 to 4 weeks before elective surgery

Anesthetic implications:

check the blood platelets level; a blood platelets transfusion may be necessary in case of surgery, dependiing on the results of a thromboelastography test (ROTEM®) and the blood platelets function (MULTIPLATE®). A blood platelets level ≥ 80.000/dL is recommended in case of heavy surgery, childbirth or before a neuraxial block. Monitor renal function and avoid nephrotoxic drugs. Caution: this thrombopathy does not protect against the thromboembolic risk linked to surgery to be considered.

References : 

-        Leverger G, Petit A, Fasola S, Landman-Parker J, Favier R. 
Les thrombopénies génétiques. 
Arch Pédiatr 2010; 17: 1185-91.

-        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.

-        Eichel Y, Tormos LM, Squires JE.
Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.
Transfusion 2016; 56: 349-53.

-        Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA.
First successfu use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia.
Pediatrics 2013; 132:e793-5.

-        Favier R, Rigouzo A, Piana F, Louvet N.
Anaesthetic recommendations for MYH-9 related diseases.
Orphanaesthesia 2019

-        Higashi M, Kaku K, Okabe Y, Yamaura K.
Anesthetic management of living-donor renal transplantation in a patient with Epstein syndrome using rotational thromboelastography: a case report.
A&A Practice 2020:; 14: e01350

Updated: December 2020