May-Hegglin anomaly
| Classification according to ICD-10 | |
|---|---|
| D72.0 | Genetic leukocyte abnormalities |
| ICD-10 online (WHO version 2019) | |
The May-Hegglin anomaly ( MHA ) is a very rare autosomal - dominant hereditary disease in which the blood platelets are changed. It is caused by a mutation in the MYH9 gene. The May-Heggelin anomaly belongs to the group of MYH9-associated diseases together with Sebastian syndrome , Fechtner syndrome and Epstein syndrome . Of these extremely rare diseases, MHA is the most common form.
Cause and genetics
The cause of MHA is a point mutation of the MYH9 gene , which is located in humans on chromosome 22 gene locus q11.2.
The gene codes for the heavy chain of a non-muscle myosin type IIA (NMMHC-IIA). This protein is in some blood cells, including granulocytes and platelets , in the cochlea ( cochlear ) and in the kidneys expressed . The mutation obviously causes a conformational change in the head of the NMMHC-IIA protein. The consequence of this is a disturbance in the aggregation of the protein into Döhle bodies , which causes a faulty organization of the cytoskeleton in the megakaryocytes , the precursor cells of the platelets. This is the cause of macrothrombocytopenia , which is manifested by a lack of platelets (a so-called thrombocytopenia ) and oversized platelets with leukocyte inclusions. The size of the platelets can even exceed that of erythrocytes.
Symptoms and diagnosis
MHA patients show a lack of thrombocytes (thrombocytopenia), as well as a dysfunction of the thrombocytes ( thrombocytopathy ). The platelets present are considerably larger than in unaffected people (macrothrombocytopenia).
In contrast to Epstein and Fechtner syndrome, patients do not develop hearing loss or glomerulonephritis .
therapy
The therapy is essentially symptomatic. A platelet transfusion may be necessary prior to surgery .
Epidemiology and prevalence
Due to the rarity of the May-Hegglin anomaly, no reliable data on its epidemiology and prevalence are available. The prevalence is estimated at 1 in 500,000.
forecast
Most patients have a normal life expectancy .
discovery
The May-Heggelin anomaly was first described in 1909 by the Munich internist Richard May (1863-1937) in a 24-year-old patient. He found inclusions in the leukocytes in her peripheral blood. In 1945, the Swiss internist Robert Hegglin (1907–1969) reported giant platelets with thrombocytopenia and inclusions in leukocytes in two generations of a family.
Individual evidence
- ↑ ICD code: D70-D77 Other diseases of the blood and the blood-forming organs.
- ↑ M. Picu et al.: An 8-Year-Old Girl With Thrombocytopenia . In: Archives of Pathology & Laboratory Medicine . Volume 129, 2005, pp. 214-217. PMID 16329740 .
- ↑ UCSC Genome Browser on Human Mar. 2006 Assembly: chr22: 35,007,273-35,113,958
- ↑ genome.ucsc.edu: Human Gene MYH9 (uc003apg.1) Description and Page Index
- ↑ JA Martignetti et al .: The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. In: Am J Hum Genet. 66/2000, pp. 1449-1454. PMID 10739770
- ↑ C. Trichet: Thrombocytopenia May-Hegglin October 2006.
- ↑ RE Scharf: Congenital and acquired thrombocytopenias. In: Hemostaseology. 23/2003, pp. 159-169.
- ↑ KE Heath et al.: Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. In: Am J Hum Genet. 69/2001, pp. 1033-1045. PMID 11590545
- ↑ a b c National Organization for Rare Disorders: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins, 2003, ISBN 0-7817-3063-5 , p. 403.
- ^ R. May: Leukocyte inclusions. In: Dtsch. Arch. Klin. Med. 96/1909, pp. 1-6.
- ^ R. Hegglin: Simultaneous constitutional changes in neutrophils and thrombocytes. In: Helv. Med. Acta. 12/1945, pp. 439-440. PMID 21009925 .
literature
- P. Beris, P. Close, JR Landis, A. Morabia: Post-infection transitory partial correction of thrombocytopenia in May-Hegglin anomaly. In: American Journal of Hematology . Volume 46, number 1, May 1994, ISSN 0361-8609 , p. 60, doi: 10.1002 / ajh.2830460115 . PMID 7605407 .
- JR Cabrera et al: Defective neutrophil mobility in the May-Hegglin anomaly. In: Br J Haematol 47/1981, pp. 337-343. PMID 7459275
- JG Drachman: Inherited thrombocytopenia: when a low platelet count does not mean ITP. (PDF; 306 kB) In: Blood . 103/2004, pp. 390-398. PMID 10891439
- E. Jantunen: Inherited giant platelet disorders. In: Eur J Haematol. 53/1994, pp. 191-196. PMID 7957801
- P. Mhaendung, S. Abdus: Inherited Giant Platelet Disorders: Classification and Literature Review. In: American Journal of Clinical Pathology 2000, pp. 176-190. PMID 10664620
- P. Noris et al .: Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. In: Am J Med. 104/1998, pp. 355-360. PMID 9576409
- N. Pujol-Moix et al .: Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. In: Haematologica . 89/2004, pp. 330-337. PMID 15020273
- M. Seri et al: 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. In: Medicine (Baltimore). 82/2003, pp. 203-215. PMID 12792306
