- May-Hegglin anomaly
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May-Hegglin anomaly Classification and external resources ICD-10 D72.0 ICD-9 288.2 OMIM 155100 DiseasesDB 29517 eMedicine ped/1383 May-Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions,[1] is a rare genetic disorder of the blood platelets that causes them to be abnormally large. The anomaly also causes abnormalities in the white blood cells known as leukocytes.
Contents
History
MHA is named for German physician Richard May(January 7,1863 - 1936) and Swiss physician Robert Hegglin.[2][3][4] The disorder was first described by Richard May in 1909, and was subsequently described by Robert Hegglin in 1945.
Pathogenesis
MHA is believed to be associated with the MYH9 gene.[5] The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract.[5] MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).
Presentation
In the leukocytes, the presence of very small rods (around 3 micrometers), or Dohle bodies can be seen in the cytoplasm.
Treatment
In many cases, MHA requires no treatment. However, in extreme cases, blood platelet transfusions may be necessary
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 155100
- ^ synd/113 at Who Named It?
- ^ R. May. Leukocyteneinschlüsse. Kasuistische Mitteilung. Deutsches Archiv für klinische Medizin, Leipzig, 1909, 96: 1-6.
- ^ R. Hegglin. Über eine neue Form einer konstitutionellen Leukozytenanomalie, kombiniert mit Throbopathie. Schweizerische medizinische Wochenschrift, Basel, 1945, 75: 91-92.
- ^ a b Saito, H.; Kunishima, S. (Apr 2008). "Historical hematology: May-Hegglin anomaly". American Journal of Hematology 83 (4): 304–306. doi:10.1002/ajh.21102. ISSN 0361-8609. PMID 17975807.
Cytoskeletal defects Microfilaments Elejalde syndrome · Hypertrophic cardiomyopathy 1, 8, 10 · Usher syndrome 1B · Freeman–Sheldon syndrome · DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 · May-Hegglin anomalyOtherFibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)IF 1/2Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures345Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)Microtubules OtherTauopathy · Cavernous venous malformationMembrane Catenin Other desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8
plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna
plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9
centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)Categories:- Disease stubs
- Coagulopathies
- Cytoskeletal defects
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