Scott Syndrome

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Classification according to ICD-10
D69.8 Other specified hemorrhagic diatheses
ICD-10 online (WHO version 2019)

The Scott syndrome is a very rare congenital disease with a tendency to bleed .

Synonym : English Platelet factor X receptor deficiency

The first description comes from 1967 by the US doctors AJ Robinson, PM Aggeler and colleagues.

The name "Scott Syndrome" was proposed in 1994 by HJ Weiss.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in ANO6 - gene on chromosome 12 locus q12 based. The gene is also known as the TMEM16F gene.

Clinical manifestations

Clinical criteria are:

  • hemorrhagic diathesis
  • reduced prothrombin consumption in the serum prothrombin time (SPT), otherwise normal coagulation parameters

Apparently the procoagulant activity is disturbed, activated platelets cannot form anionic phospholipids and release proagulant microparticles. The presentation of phosphatidylserine on the surface of activated platelets is essential for the formation of effective enzyme complexes.

diagnosis

The diagnosis results from the blood and coagulation tests . Typically all coagulation parameters except for the serum prothrombin time are normal.

literature

  • HJ Weiss, WJ Vicic, BA Lages, J. Rogers: Isolated deficiency of platelet procoagulant activity. In: The American journal of medicine. Volume 67, Number 2, August 1979, pp. 206-213, PMID 572637 .

Individual evidence

  1. ↑ a b c Scott syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ AJ Robinson, PM Aggeler, GP McNicol, AS Douglas: An atypical genetic haemorrhagic disease with increased concentration of a natural inhibitor of prothrombin consumption. In: British Journal of Hematology . Volume 13, Number 4, July 1967, pp. 510-527, PMID 6029953 .
  3. ^ HJ Weiss: Scott syndrome: a disorder of platelet coagulant activity. In: Seminars in hematology. Volume 31, Number 4, October 1994, pp. 312-319, PMID 7831576 (review).
  4. ^ Scott syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Anoctamine 6.  In: Online Mendelian Inheritance in Man . (English)

Web links