Convegno emofilia20121201lubas

Aspe%&clinici&dell’emofilia&A&nel&cane&George Lubas

Prof. di Clinica Medica Veterinaria Dipl. European College Veterinary Internal Medicine

Ass. Dipl. European College Veterinary Clinical Pathology &

Convegno&Internazionale:&“L’emofilia&A&nel&cane”&

Ente&Nazionale&Cinofilia&Italiana&Verona&1°&Dicembre&2012&

!!Dip.!Scienze!Veterinarie!Università!degli!Studi!di!Pisa!

1&1°&Dicembre&2012& Prof.&G.&Lubas&

Definizione&•  L’emofilia&A,&o&emofilia&classica,&deriva&dalla&deficienza&o&assenza&del&faKore&VIII&(F&VIII),&elemento&essenziale&della&emostasi&secondaria&

Danno Vascolare

vasocostrizione esposizionecollagene

rilascio ditromboplastina

tessutale

TROMBINA

cascataestrinseca

cascataintrinseca

adesione piastrine

attivazione e rilasciopiastrine

fibrinogeno

trasformazionein fibrina

aggregazionepiastrinica

tappo piastrinicoprimario

tappo emostaticodefinitivomodulazione dell'emostasi 2&1°&Dicembre&2012& Prof.&G.&Lubas&

atti vazi one da contattovi vo : col l agene, compl essi Ab/Agvi tr o : super fi ci ar ti fi ci al i , vetr o

FXI I FXI I a

cal l i cr ei na pr ecal l i cr ei na

FXI FXI a

F I XFI Xa

Ca FVI I I :CFVI I I a + Ca + PF3

fattor i tessutal ical l i cr ei naFXI I a, F I Xa, FXa

FVI IFVI I a

FX FXa

FV FVa + Ca + PF3

Pr otr ombi na Tr ombi na

Fi br i nogeno monomer oFi br i na

FXI I IFXI I I aCa

pol i mer oFi br i na

V i a E s tr i n seca (c l as s i ca)

V i a E s tr i n seca a l ter n at i va

V i a I n tr i n seca

V i aComu n e

ACT, aPTT PT

Patogenesi&

•  Gene&posto&sul&cromosoma&X&(legata&al&sesso)&ad&elevata&potenzialità&mutagena&

•  Deriva&da:&– mutazione&del&gene&(nuovi&casi)&&–  trasmissione&ereditaria&(casi&di&forme&lieviRmoderata)&

Epidemiologia&

•  Prevalenza&ignota&nel&cane&•  Considerata&la&più&comune&coagulopaUa&ereditaria&insieme&al&Morbo&di&von&Willebrand&

•  Segnalata&in&molte&razze&pure&(>&40)&e&meUcci&•  Nell’uomo&incidenza&di&1/30.000&maschi&

Due&Upi&principali&di&alterazione&dell’emostasi&(modificata&da&Willard&et&

al.,&1999)&

1°&Dicembre&2012& Prof.&G.&Lubas&

Sintomatologia&clinica&

•  Si&riconoscono&tre&forme&cliniche&in&relazione&all’a%vità&del&FVIII:&–  Lievi&FVIII&&5R20%&– Moderata&FVIII&1R5%&– Gravi&FVIII&<1%&

•  Il&sanguinamento&clinico&delle&tre&forme&può&non&essere&correlato&alla&quanUtà&del&FVIII&

•  La&gravità&del&sanguinamento&clinico&può&essere&correlato&alla&taglia&e&all’a%vità&fisica&del&cane&

Forme&cliniche&•  Cuccioli&

–  Sanguinamento&persistente&ombelico&–  Ematomi&cutanei&–  Emorragie&gengivali&alla&denUzione&permanente&

•  Giovani,&adulU&–  Zoppie&intermiKenU&e&migranU&da&emartri&–  Ematomi&muscolari&–  Emorragie&perioculari&e&oculari&–  Emorragie&mediasUniche,&emotorace&e&retroperitoneale&(fino&a&morte)&

–  Emorragie&nel&midollo&spinale&e&SNC&

Emorragia&ombelicale&persistente&in&un&cucciolo&emofilico&(LiKlewood&JD,&2000)&

Ematomi&cutanei&diffusi&nel&cucciolo&

Emorragia&gengivale&al&cambio&denUzione&(LiKlewood&JD,&2000)&

Emorragia&del&cavo&orale&1°&Dicembre&2012& Prof.&G.&Lubas&

Ematomi&cutanei&

Ematomi&cutanei&ed&arUcolari&

Ematomi&muscolari&

Radiologia&e&Emartri&

Postumi&di&ematomi&intramuscolari&

Postumi&di&ematomi&intraossei&&

1°&Dicembre&2012& Prof.&G.&Lubas&

Pubblicazioni&emofilia&A&nel&passato&

SiU&web&in&collaborazione&

Pubblicazioni&recenU&

sull’emofilia&A&

FACTOR VIII LEVELS IN A GROUP OF BELGIAN SHEPHERD MALINOIS DOGS BREED IN ITALY

Lubas G. 1, Gavazza A. 1, Caldin M 2 1- Dept. of Veterinary Clinic, University of Pisa; 2- San Marco Veterinary Laboratory, Padua,

Italy Occurrence of Hemophilia A in the Belgian Shepherd Malinois (BSM) dog has been recently described. This is the most common and severe inherited canine coagulopathy. Diagnosis is based on clinical signs, prolonged aPTT, and reduction in factor VIII activity. The study aim was to assess the level of FVIII in BSM dogs in Italy. Fifty-four studbook registered BSMs have been investigated (34 males, 20 females), in which Hemophilia A was a possible condition. For each BSM, the genealogical data and, whenever possible, the history and other clinical data were collected. All BSMs were tested for FVIII concentration using two reference labs. When possible, the FvW concentration in females was also assessed (carrier FVIII/FvW <0.60). Most of the data are displayed in a free accessible web site (www.malinemo.net). Ten male dogs had low level of FVIII (range 5-21%, consistent with Hemophilia A), four females showed FVIII between 28-55% (carrier range), and 21 dogs resulted with FVIII level >70%. Nineteen dogs showed FVIII level at the borderline either for carrier or clear range. The present work supports the evidence of Hemophilia A in BSM dogs, with a relatively high frequency. Unfortunately, the level of FVIII alone does not allow a clear set between carrier and clear dogs. Only the complete clinical examination, together with laboratory data, should rule-out concurrent disorders (i.e. liver failure or acquired coagulopathy). Further studies on factor VIII gene mutations using offspring to correct identify the Hemophilia A in BSM dogs are in progress.

Cucciolo&cane&corso&(FvW=62%,&FVIII=3%)&

Aspe%&clinici&dell’emofilia&A&nel&cane&George Lubas

Prof. di Clinica Medica Veterinaria Dipl. European College Veterinary Internal Medicine

Ass. Dipl. European College Veterinary Clinical Pathology &

Convegno&Internazionale:&“L’emofilia&A&nel&cane”&

Ente&Nazionale&Cinofilia&Italiana&Verona&1°&Dicembre&2012&

!!Dip.!Scienze!Veterinarie!Università!degli!Studi!di!Pisa!

Convegno emofilia20121201lubas

Documents

CONVEGNO INTERCULTURALE

convegno autismo

Convegno esrea

Convegno IeFP

Appunti Convegno

Convegno thermoshield

Slide Convegno

Convegno UPA

convegno tiroide

CONVEGNO VIRTUALE

Convegno Assolowcost

Presentazione Convegno

V Convegno

Convegno 24aprile

Convegno emilia

I Convegno

Convegno Rosazzo

Convegno Nicotera

Convegno Anicia

Convegno Gt