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May-Hegglin Anomaly

MedGen UID:
87410
•Concept ID:
C0340978
•
Disease or Syndrome

Definition

An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. [from NCI]

Professional guidelines

PubMed

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL, Pecci A, Savoia A
Br J Haematol 2011 Jul;154(2):161-74. Epub 2011 May 4 doi: 10.1111/j.1365-2141.2011.08716.x. PMID: 21542825
The added value of peripheral blood cell morphology in the diagnosis and management of infectious diseases--part 1: basic concepts.
Prokocimer M, Potasman I
Postgrad Med J 2008 Nov;84(997):579-85. doi: 10.1136/pgmj.2008.069609. PMID: 19103815
Genotype-phenotype correlation in MYH9-related thrombocytopenia.
Dong F, Li S, Pujol-Moix N, Luban NL, Shin SW, Seo JH, Ruiz-Saez A, Demeter J, Langdon S, Kelley MJ
Br J Haematol 2005 Aug;130(4):620-7. doi: 10.1111/j.1365-2141.2005.05658.x. PMID: 16098078

Recent clinical studies

Etiology

Spontaneous and recurrent subdural haematoma in a patient with May-Hegglin anomaly.
Doherty JA, Millward CP, Sarsam Z
BMJ Case Rep 2021 May 7;14(5) doi: 10.1136/bcr-2021-243134. PMID: 33962937Free PMC Article
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
MYH9-related platelet disorders.
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192

Diagnosis

MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
MYH9-related platelet disorders.
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192
Inherited giant platelet disorders.
Jantunen E
Eur J Haematol 1994 Oct;53(4):191-6. doi: 10.1111/j.1600-0609.1994.tb00187.x. PMID: 7957801

Therapy

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
Kumemura M, Omae T, Kou K, Sakuraba S, Niimi N, Kunishima S
J Anesth 2018 Aug;32(4):641-644. Epub 2018 Jun 22 doi: 10.1007/s00540-018-2522-8. PMID: 29934660
Management of May-Hegglin anomaly referred for coronary artery bypass.
Kerros H, Roule V, Ivascau C, Labombarda F
Platelets 2011;22(6):471-2. Epub 2011 May 25 doi: 10.3109/09537104.2011.578694. PMID: 21612329
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly.
Fishman EB, Connors JM, Camann WR
Anesth Analg 2009 May;108(5):1603-5. doi: 10.1213/ane.0b013e31819d1e71. PMID: 19372343
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy.
Sehbai AS, Abraham J, Brown VK
Am J Hematol 2005 Aug;79(4):303-8. doi: 10.1002/ajh.20446. PMID: 16044442
May-Hegglin anomaly and pregnancy.
Pajor A, Nemes L, Demeter J
Eur J Obstet Gynecol Reprod Biol 1999 Aug;85(2):229-31. doi: 10.1016/s0301-2115(99)00032-9. PMID: 10584641

Prognosis

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
Kumemura M, Omae T, Kou K, Sakuraba S, Niimi N, Kunishima S
J Anesth 2018 Aug;32(4):641-644. Epub 2018 Jun 22 doi: 10.1007/s00540-018-2522-8. PMID: 29934660
May-Hegglin anomaly.
Hsia CC, Xenocostas A
Blood 2012 Jan 12;119(2):328. doi: 10.1182/blood-2010-12-325431. PMID: 22351964
Advances in the understanding of MYH9 disorders.
Kunishima S, Saito H
Curr Opin Hematol 2010 Sep;17(5):405-10. doi: 10.1097/MOH.0b013e32833c069c. PMID: 20601875
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.
Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, Desnick RJ
Am J Hum Genet 2000 Apr;66(4):1449-54. Epub 2000 Mar 17 doi: 10.1086/302873. PMID: 10739770Free PMC Article

Clinical prediction guides

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
Kumemura M, Omae T, Kou K, Sakuraba S, Niimi N, Kunishima S
J Anesth 2018 Aug;32(4):641-644. Epub 2018 Jun 22 doi: 10.1007/s00540-018-2522-8. PMID: 29934660
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.
Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, Desnick RJ
Am J Hum Genet 2000 Apr;66(4):1449-54. Epub 2000 Mar 17 doi: 10.1086/302873. PMID: 10739770Free PMC Article
Megakaryocyte polyploidization in May-Hegglin anomaly.
Mayer M, Sperling H, Schaefer J, Queisser W
Acta Haematol 1978;60(1):45-52. doi: 10.1159/000207694. PMID: 97899

Recent systematic reviews

May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802

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