Macrothrombocytopenia with mitral valve regurgitation
| Classification according to ICD-10 | |
|---|---|
| D69.4 | Other primary thrombocytopenia |
| ICD-10 online (WHO version 2019) | |
The macrothrombocytopenia with mitral regurgitation is a to the group of Makrothrombozytopenien associated congenital form of thrombocytopenia with additional mitral regurgitation .
The first description comes from 1998 by the US doctors Pamela S. Becker, Luis A. Clavell and Diana S. Beardsley
distribution
The frequency is given as less than 1 in 1,000,000, so far a family has been described. Inheritance is autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- Onset of illness in early childhood
- Little increased tendency to bleeding with nosebleeds and bruises , delayed blood clotting
- Mitral valve regurgitation
root cause
The exact cause is not yet known.
literature
- P. Mhaendung, A. Saleem: Inherited giant platelet disorders. Classification and literature review. In: American journal of clinical pathology. Volume 113, Number 2, February 2000, pp. 176-190, doi: 10.1309 / FC4H-LM5V-VCW8-DNJU , PMID 10664620 (review).
Individual evidence
- ↑ Macrothrombocytopenia with mitral valve regurgitation. In: Orphanet (Rare Disease Database).
- ↑ a b c P. S. Becker, LA Clavell, DS Beardsley: Giant platelets with abnormal surface glycoproteins: a new familial disorder associated with mitral valve insufficiency. In: Journal of pediatric hematology / oncology. Volume 20, Number 1, 1998 Jan-Feb, pp. 69-73, PMID 9482416 .
