Deficit di proteina S

Deficit di proteina S
Specialitàematologia
Classificazione e risorse esterne (EN)
ICD-9-CM289.81
OMIM176880
MeSHD018455
eMedicine205582
Modifica dati su Wikidata · Manuale

Il deficit di proteina S è un disturbo associato all'aumento di rischio di incorrere in trombosi venosa. La proteina S, un anticoagulante fisiologico dipendente dalla vitamina K, agisce come cofattore enzimatico di proteina C attivata nella degradazione proteolitica del fattore V e del Fattore VIII. La diminuzione dei livelli o l'alterata funzionalità della proteina S comporta alla diminuzione della degradazione del fattore Va e del fattore VIII e quindi ad un aumento della tendenza alla trombosi venosa. La proteina S circola nel plasma umano in due forme.[1]

Tipi

Vi sono tre tipi di deficit di proteina S ereditaria:

  • Tipo I - ridotta attività della proteina S: diminuzione totale della proteina S (difetto quantitativo)
  • Tipo II - ridotta attività della proteina S: i livelli normali della proteina S libera e i livelli di proteine totali S sono normali (difetto qualitativo)
  • Tipo III - ridotta attività della proteina S: diminuzione dei livelli della proteina S libera e normali livelli di proteine totali S (difetto quantitativo)

il deficit di proteina S può anche essere acquisito a causa di carenza o di un trattamento farmacologico con warfarin, per via di una terapia ormonale sostitutiva, in gravidanza, con alcune malattie del fegato o nel caso di infezioni croniche (ad esempio HIV)

il deficit di proteina S è la causa di fondo di una piccola percentuale di casi di coagulazione intravascolare disseminata (CID), trombosi venosa profonda (TVP) ed embolia polmonare (EP).

Note

  1. ^ ten Kate M, Mulder R, Platteel M, Brouwer J, van der Steege G, van der Meer J, Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency, in Haematologica, vol. 91, n. 8, 2006, pp. 1151–2, PMID 16885060.

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