Hereditary combined deficiency of vitamin K-dependent coagulation factors
| Classification according to ICD-10 | |
|---|---|
| D68.2 | Hereditary deficiency in other coagulation factors |
| ICD-10 online (WHO version 2019) | |
A Hereditary combined deficiency of the vitamin K-dependent coagulation factors (VKCFD) is a very rare congenital disease with a bleeding tendency due to decreased and the vitamin K dependent Direction clotting factors .
Synonyms are: factors II, VII, IX and X, hereditary combined deficiency; VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1
The first description comes from 1966 by the US doctors Campbell W. McMillan and Harold R Roberts .
distribution
The frequency is given to be less than 1 in 1,000,000, so far about 30 families have been reported. Inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , a distinction is made between two types:
- Type I with mutations in the GGCX - gene on chromosome 2 gene locus p11.2 that for the gamma-glutamyl carboxylase coded.
- Type II with mutations in VKORCa - gene on chromosome 16 locus encodes p11.2 that for subunit 1 of vitamin K-2,3-epoxide reductase complex.
Both proteins are involved in the activation of the coagulation factors.
Clinical manifestations
Clinical criteria are:
- Bleeding tendencies vary widely, mostly affecting skin and mucous membranes
- Onset in newborns
Often there are additional abnormalities such as punctiform calcifications of the long bones, shortened finger terminal phalanges, osteoporosis , pseudoxanthoma elasticum-like changes.
Differential diagnosis
Other coagulation disorders, acquired forms of the disease with malabsorption of vitamin K, cirrhosis of the liver , intake of vitamin K antagonists are to be distinguished.
therapy
Treatment consists of giving vitamin K; blood plasma and prothrombin complex concentrates are given prior to planned operations .
Prospect of healing
The prognosis is considered favorable.
literature
- M. Napolitano, G. Mariani, M. Lapecorella: Hereditary combined deficiency of the vitamin K-dependent clotting factors. In: Orphanet Journal of Rare Diseases. Vol. 5, July 2010, p. 21, doi: 10.1186 / 1750-1172-5-21 , PMID 20630065 , PMC 2913942 (free full text) (review).
- BW Weston, PE Monahan: Familial deficiency of vitamin K-dependent clotting factors. In: Haemophilia. Vol. 14, No. 6, November 2008, pp. 1209-1213, doi: 10.1111 / j.1365-2516.2008.01853.x , PMID 19141161 , PMC 2643352 (free full text).
Individual evidence
- ↑ a b c d e Vitamin K-dependent coagulation factors, hereditary combined deficiency. In: Orphanet (Rare Disease Database).
- ^ CW McMillan, HR Roberts: Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case. In: The New England Journal of Medicine . Vol. 274, No. 23, June 1966, pp. 1313-1315, doi: 10.1056 / NEJM196606092742309 , PMID 5936414 .
- ^ Vitamin K-dependent clotting factors, combined deficiency of, 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Vitamin K-dependent clotting factors, combined deficiency of, 2nd In: Online Mendelian Inheritance in Man . (English)
