Abstract
Although desmopressin (DDAVP) is considered as the treatment of choice for many patients
with mild hemophilia A, several aspects of DDAVP therapy remain unclear, including
the rate and type of response and the molecular determinants of its clinical efficacy.
To investigate these issues, we retrospectively studied all patients with mild hemophilia
A followed up at the Parma Hemophilia Center. A total of 75 patients were enrolled
who underwent a DDAVP test, and out of whom, 76% (57/75) had a complete or partial
response. Response to DDAVP was significantly correlated to the patients' age (median
age of responders and nonresponders: 24 and 18 y, respectively; p = 0.04) and type of mutation (all the 10 patients with mutations in the promoter
region were nonresponders). The median basal factor VIII (FVIII):C level was significantly
lower in responders than in nonresponders (0.14 vs. 0.19 IU/mL, respectively; p = 0.01); this was mainly due to nonresponders with promoter region mutations who
had higher basal FVIII:C levels. During the 12-year follow-up, 82 of 237 (35%) bleeding
episodes occurring in 27 responder patients were treated with 246 DDAVP infusions
with complete or partial efficacy in 92% (75/82). Overall, 142 events were managed
with 253 prophylactic DDAVP infusions, which were hemostatically effective in 96%
of cases. No severe adverse reactions to DDAVP administration were recorded during
the study period. These results document the safety and efficacy of DDAVP as a treatment
or prevention of bleeding in patients with mild hemophilia A, also in the context
of home treatment, and encourage the more widespread use of this product.
Keywords
mild hemophilia A - desmopressin - treatment efficacy - genotype
