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Emofilia: che cos’è e quali sono le terapie

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L' emofilia è una malattia congenita ed ereditaria, causata da un deficit di alcune proteine ​​della coagulazione del sangue. L'emofilia provoca gravi sanguinamenti spontanei emartri, ematomi muscolari, ematuria, emorragie interne ed esterne.L' emofilia colpisce i soggetti di sesso maschile, ma si trasmette attraverso la femmina, la quale può essere portatrice sana di un carattere genetico anomalo.L'emofilia non è ancora stata sconfitta, ma i farmaci e le biotecnologie hanno migliorato la qualità di vita dei pazienti in modo sensibile

Che cos’è l’emofilia

L’emofilia è un’ affezione ereditaria familiare, a trasmissione recessiva dalla donna ai soli figli maschi, caratterizzata da un ritardo della coagulazione e da emorragie prolungate, spontanee o che compaiono al minimo trauma.

Eziologia

La trasmissione dell’emofilia è collegata al cromosoma sessuale X; le donne sono portatrici sane mentre si manifesta quasi esclusivamente negli uomini; in effetti, l’emofilia femminile si manifesta solo nei casi in cui il padre sia emofilico e la madre portatrice. In un terzo di casi di emofilia non si hanno antecedenti familiari.




Emofilia A o classica

L’emofilia Asi manifesta nell’ 85% dei casi: è dovuta ad un deficit di fattore VIII, chiamato anche fattore anti-emofilico A” che è essenziale per la formazione della trombroplastina.

Emofilia Bo malattia di Christmas: si manifesta nel 15% dei casi ed è causata da un deficit di fattore IX. È importante distinguerla dall’ emofilia  A poiché la terapia è diversa; la stabilità del fattore IX permette il trattamento di questa forma di emofilia con sangue o plasma conservato.

Il deficit di fattore XI o PTAè a volte chiamato impropriamente emofilia C”. Questo deficit raro è infatti un’ affezione distinta dall’ emofilia; è trasmesso come carattere dominante, non legato al sesso e si manifesta nei due sessi con una sindrome emorragica relativamente benigna.

 




Quadri emorragici generali nelle sindromi emofiliache

  1. Il quadro clinico dei pazienti con sindromi emofiliche è caratterizzato dalla spiccata tendenza alle emorragie anche spontanee a livello di muscoli (ematomi) , articolazioni (emartri), cutanee (ecchimosi), mucose (gengivorragia,epistassi,gastroenterorragia) di organi vitali (emorragie intracraniche). L’intensità e la frequenza degli episodi emorragici sono proporzionali all’entità del difetto (tanto maggiore quanto più grave la carenza) . ù
  2. Gli ematomi muscolarisono tra i più gravi e invalidanti i sintomi delle emofilie A e B. Le sedi più frequenti sono rappresentate da polpaccio, coscia gluteo e avambraccio; gli ematomi dell’avambraccio vanno osservati e trattati attentamente, in quanto rischiano di comprimere i nervi mediano e cubitale, con gravi disturbi sensitivi e motori.
  3. L’ematoma della psoassi manifesta con dolore all’inguine accompagnato da posizione antalgica della coscia in flessione e rotazione.
  4. Pericolosi sono gliematomi dei muscoli del pavimento della boccae del collo, perché possono portare a compressioni del tratto respiratorio.
  5. Tra tutte le manifestazioni emorragiche delle emofilia A e B, le più caratteristiche sono gli emartri; l’articolazione più colpita è quella del ginocchio, seguita da quelle del gomito, piede e anca, mentre le altre sono più rare.
  6. Gli emartri richiedono sempre un pronto intervento, poiché, se non trattati, portano all’artropatia emofilica, con gravi alterazioni articolari e dei capi ossei che possono condurre alla deformità.
  7. A carico dellamucosa nasalepossono presentarsi epistassi gravi.
  8. A carico dellacavità orale,piccole morsicature o ferite della lingua, del labbro, della guancia sono spesso causa di sanguinamento grave e prolungato; la caduta dei denti e le estrazioni dentarie danno luogo a emorragie prolungate. L’ematuria è molto frequente nelle sindromi emofiliche e gravi ed è accompagnata da dolore colico, dovuto alla formazione di coaguli nella pelvi e al loro passaggio nel uretere.
  9. Le emorragie gastrointestinalisono più rare e sono dovute a un diffuso sanguinamento della mucosa gastrica.
  10. Le emorragie intracranichesono rare e possono essere conseguenti a traumi anche lievi oppure possono insorgere senza apparenti cause locali o sistemiche.
  11. Le emorragie in corso di interventi chirurgicipossono comparire quando un paziente con sindrome emofilica non è stato diagnosticato oppure quando non viene sottoposto a trattamento adeguato.

Diagnosi dell’emofilia

  • Tendenza emorragica dopo traumi anche minimi in un paziente di sesso maschile; anamnesi familiare.
  • Ematoma o emartro recidivanti.
  • Prolungamento del tempo di coagulazione e \o del tempo di cefalina – caolino.

Prognosi 

Le emorragie spontanee sono veramente pericolose; al contrario i traumi possono provocare emorragie anche fatali.




Emofilia: quali sono le cure 

Vi sono molteplici opzioni terapeutiche per il trattamento dell’emofilia. La terapia cardine è stata la terapia sostitutiva: la somministrazione di fattore di coagulazione VIII ai pazienti con emofilia A e di fattore di coagulazione IX a pazienti con emofilia B.  Lo scopo di tali terapie è quello di  prevenire e curare le emorragie, che possono venire somministrati esclusivamente pervia endovenosa.L’uso di emoderivati contenenti fattore VIII ha cambiato la prognosi e la qualità di vita di questi pazienti. 

Terapia emostatica sistemica:negli emofilici moderati e lievi (ma non nei gravi) è possibile ottenere un moderato aumento di VII: C circolante mediante infusione ev  o sc di dermopressina, analogo sintetico ell’ ADH, che stimola la secrezione di fattore VIII. 

Terapia emostatica locale: può essere utile da sola o in associazione agli emoderivati e agli emostatici sistemici per favorire localmente l’emostasi e la cicatrizzazione di ferite superficiali. Si avvale di colla di fibrina  o di trombina. 

Terapie collaterali: importantissima è quella antalgica. A questo scopo è da prescrivere l’uso di aspirina e da limitare al minimo possibile quello di FANS e, se non sotto copertura con emoderivati, in quanto questi farmaci esplicano tutti attività antiprostaglandine e quindi antiaggregante. E’consentito l’uso di paracetamolo a (dosi 500-1000 mg/die) di pentazocina, o di buprenorfina morfina se è il caso e di altri farmaci non FANS e con effetto antalgico come il tramadolo cloridrato.

 




 

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