Quando si parla di emofilia si fa riferimento ad un gruppo di malattie ereditarie che provocano un eccessivo o anomalo sanguinamento e scarsa o mancata coagulazione del sangue. L’emofilia A si differenzia dalla B (nota anche come malattia di Christmas) in relazione ai diversi fattori genetici coinvolti. In genere ne sono colpiti maggiormente i maschi, mentre le femmine sono portatrici sane: è più raro, ma non impossibile che una donna sia affetta da questa patologia. Esiste anche la cosiddetta emofilia acquisita, una rara forma che si sviluppa quando il sistema immunitario attacca i fattori di coagulazione scambiandoli per nemici: è cioè considerata una malattia autoimmune.
Quanto è grave l’emofilia?
L’emofilia può essere più o meno grave a seconda dell’individuo che ne è affetto ed avere quindi complicanze differenti. La gravità dell’emofilia di una persona è classificata in base ai livelli di fattori di coagulazione nel sangue:
- Emofilia lieve: 5% al 50% della normale quantità
- Emofilia moderata: 1% a 5% della normale quantità
- Grave emofilia: Meno dell’1% della normale quantità di fattore di coagulazione
I sintomi dell’emofilia
I sintomi sia dell’emofilia A che di quella B sono tendenzialmente gli stessi ed includono:
- Tendenza a sviluppare lividi eccessivi
- Gonfiore, dolori articolari (a causa di un sanguinamento articolare)
- Gonfiore ai muscoli durante o dopo uno sforzo (a causa di emorragie nei muscoli)
- Eccessivo sanguinamento delle gengive, della lingua, o nel cavo orale (soprattutto nei neonati e nei bambini piccoli)
- Sanguinamento grave dopo estrazioni dentarie o altre procedure odontoiatriche invasive
- Prolungato sanguinamento dopo infortuni o operazioni, ma anche dopo una banale iniezione.
Tendenzialmente però quello che deve mettere in allarme (oltre la familiarità) è la difficoltà di coagulazione del sangue. Tra i sintomi di un’emorragia interna, occorre tener presente anche una debolezza generalizzata, stato confusionale o difficoltà di respirazione, sangue nelle feci (che comunque possono indicare anche altre patologie)
Quali sono le cure per l’emofilia?
I trattamenti per l’emofilia includono:
- La giusta medicazione
- Integrazione dei Fattori di coagulazione
- Cure per le conseguenze della malattia (ad esempio per curare le emorragie nelle articolazioni)
La tipologia precisa di queste cure dipende dal tipo di emofilia (cioè se è di tipo A o B) oltre che dalla gravità. In caso di malattia lieve ad esempio, bastano particolari medicazioni in caso di una ferita, ma se la condizione è considerata grave allora servono veri e propri farmaci da assumere per prevenire le emorragie. In caso di emofilia A ad esempio si somministra per via endovenosa la desmopressina che aumenta seppur temporaneamente la concentrazione del fattore VIII nel sangue (quello cioè la cui carenza crea il problema).
Complicanze dell’emofilia
La complicanza primaria è chiaramente un’emorragia che può anche essere fatale. Chiaramente se è interna è ancora più pericolosa e subdola perché non sempre la si scopre per tempo. Una emorragia interna in questo caso può comportare ulteriori problemi di salute, tra cui:
- Deformità articolari
- Sanguinamento dai reni (e sangue nelle urine)
- Sanguinamento in gola che può provocare difficoltà di respirazione
- Sanguinamento nel cervello , che può portare a danni cerebrali
La deformità articolare può essere grave, se non trattata per tempo l’emofilia, in quanto invalidante. Nelle persone con emofilia grave il sanguinamento alle articolazioni può essere addirittura spontaneo, cioè non provocato da traumi. Il sanguinamento in un’articolazione può causare cicatrici nel giunto. Con il ripetersi di questi eventi il giunto può perdere la mobilità e diventa suscettibile di emorragie maggiori. Il ginocchio, la caviglia e le articolazioni del gomito sono le strutture articolari colpite più di frequente da questo problema. Anche il sanguinamento nei muscoli delle gambe può essere seriamente invalidante.
Potrebbero interessarvi anche i seguenti post:
- Emofila di tipo A e cura con trapianto di midollo
- I fumatori sono più a rischio di emorragie cerebrali
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