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Factor VII deficiency
Author(s) -
Ragni Margaret V.,
Lewis Jessica H.,
Spero Joel A.,
Hasiba Ute
Publication year - 1981
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830100112
Subject(s) - medicine , incidence (geometry) , consanguinity , risk factor , pediatrics , abnormality , lumbar puncture , vaginal delivery , head trauma , surgery , cerebrospinal fluid , pregnancy , physics , psychiatry , biology , optics , genetics
This report describes three patients with factor (F) VII deficiency: two adult siblings and an unrelated 5½‐month‐old child who succumbed after several central nervous system (CNS) hemorrhages. This event prompted a review of the literature concerning the incidence and characteristics of intracranial hemorrhage in congenital F VII deficiency. Of 138 patients reported to have F VII deficiency, only 75 were considered to have a true deficiency. There was a 1:1 sex distribution with a 19% incidence of consanguinity in the 63 families which these 75 patients represented. CNS hemorrhage occurred in 12 of the 75 proven factor‐deficient patients – an incidence of 16.0%. There was a 1.4:1 female predominance in this group, with a 44.4% incidence of consanguinity in their nine families. Except for one patient with hypertension, there was no history of preceding trauma or previous underlying CNS abnormality, though head trauma with a difficult vaginal delivery may have occurred in five infants. Diagnostic lumbar puncture or ventricular tap revealed bloody, xanthochromic cerebrospinal fluid in five. Five patients with F VII deficiency developed a CNS hemorrhage prior to 1 week of age, and none survived. Seven patients older than 1 week of age suffered such an event, and four of these survived. It is concluded that the greatest risk factor for development of CNS hemorrhage is trauma related to the birth process.