Severe Hereditary Deficiency of Factor VII during Pregnancy

1970 ◽  
Vol 24 (01/02) ◽  
pp. 146-151 ◽  
Author(s):  
U Seligsohn ◽  
M. R Peyser ◽  
R Toaff ◽  
M Shani ◽  
B Ramot

SummaryIn normal pregnant women factor VII level is increased. This may also be observed in women with hereditary partial factor VII deficiency.In a 38 year old woman with severe hereditary factor VII deficiency no change of the factor level was observed during pregnancy. The patient underwent two uneventful caesarian sections because of placenta praevia and transverse lie of the fetus.During the second caesarian section factor VII level was simultaneously determined in blood obtained from the antecubital and uterine veins and from the umbilical vein and artery. Factor VII levels in the umbilical vessels were similar and exceeded the levels observed in the mother’s vessels. In 3 control patients similar examinations were performed during caesarian sections but reversed ratios of factor VII levels were observed. These data seem to prove that factor VII does not cross the placenta.In the family study 2 siblings were found to have severe factor VII deficiency whereas several other members had either normal or partial deficient levels. The results obtained support again the assumption that factor VII deficiency is inherited by an autosomal gene that in the homozygous state is manifested by severe factor VII deficiency and in the heterozygous state by mild deficiency or normal factor VII levels.

1961 ◽  
Vol 05 (01) ◽  
pp. 087-092 ◽  
Author(s):  
F. J Cleton ◽  
E. A Loeliger

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4011-4011
Author(s):  
Randi J. Katz ◽  
Amir Steinberg ◽  
Robert Klafter

Abstract Factor VII deficiency is a rare autosomal recessive disorder. Its incidence is thought to be 1 in 500,000. Symptoms vary from mild to severe. Factor VII deficient patients usually do not experience bleeding if their level of factor VII is less than 10%. Manifestations are seen with levels less than 5%, and severe bleeding can occur with levels less than 1%. Surgical hemostasis is obtained with levels greater than 25%. Factor VII deficiency is notable for causing a prolonged PT with a normal aPTT, making the diagnosis easy to determine. This is a descriptive study based on a population of patients from our community based teaching hospital with severe Factor VII deficiency. We reviewed lab data and found any patients with less than a 5% factor deficiency from March 2004- June 2006. In our experience we have noted varying manifestations in moderate factor deficiency patients. We describe four patients with varying symptoms, all with factor levels less than 3%. Their charts were reviewed, and three of the patients were available for a telephone interview. Patient A is a 75 yo African American female found to have factor deficiency after an increased Prothrombin time (PT) of 31.2 seconds, INR 5.9, and Partial thromboplastin time (PTT) of 34.9 seconds on routine blood work. This patieny’s factor level was found to be 1.86%. Patient A denied any history of bleeding complications, including an uncomplicated tooth extraction. Patient B is a 46 yo African American female with a long history of bleeding complications. Laboratory data revealed a PT of 26 seconds, INR 4.2, PTT 22 seconds and a Factor level of 1%. She experienced years of heavy menstrual periods and nose bleeds. A hysterectomy was performed secondary to bleeding fibroids. She required multiple doses of novoseven as well as FFP. Patient C was diagnosed at the age of 11. Laboratory results revealed a factor level of 1.87 %, and a PT of 25.1 seconds and an INR of 4.1. She has had minor bleeding events, such as gum bleeding. She did receive FFP prior to a foot surgery, and tooth extraction. Patient D is a 46 year old Hispanic man found to have and INR of 4.3 and, factor VII 1.45. Pt had an uncomplicated cholocystectomy. This is a descriptive study of four different patients with factor VII levels of less than 2%. These four cases demonstrate the wide range of clinical manifestations that factor VII patients may experience. One patient did require novoseven prior to a hysterectomy. Though, as our cases illustrate, some patients do not experience any bleeding manifestations, and therefore, prophylactic plasma may not be required. Furthermore, treatment of factor VII deficient patients needs to be individualized, and guided by personal history. Coagulation Studies of our Patients Patient Prothrombin Time INR Factor VII A 31.2 5.9 1.86% B 26 4.2 1% C 25.1 4.1 1.87% D 46 4.3 1.45%


1964 ◽  
Vol 37 (2) ◽  
pp. 172-181 ◽  
Author(s):  
Charles A. Hall, ◽  
Samuel I. Rapaport ◽  
Sara B. Ames ◽  
Jean A. DeGroot ◽  
Edward S. Allen ◽  
...  

1995 ◽  
Vol 74 (01) ◽  
pp. 313-321 ◽  
Author(s):  
Edward G D Tuddenham ◽  
Susan Pemberton ◽  
David N Cooper

2002 ◽  
Vol 14 (4) ◽  
pp. 441-443 ◽  
Author(s):  
Andrew P. Chilton ◽  
Tariq Hussain ◽  
Elwyn Elias

PEDIATRICS ◽  
1961 ◽  
Vol 27 (2) ◽  
pp. 204-213
Author(s):  
Helen I. Glueck ◽  
James M. Sutherland

A case of factor-VII deficiency of a congenital nature in a Negro male child has been reported. As far as can be determined, this is the first case reported in this race. The defect was detected at 6 hours of age. Prothrombin, as contrasted to factor VII, after initially low levels normally found in infants, rose to adult levels. The patient's one-stage prothrombin time has ranged between 25 to 35 second (normal 11 to 12 seconds). In spite of this, he has never shown any manifestations of hemorrhage. The patient's family was studied and the findings indicate that the patient's defect represented a homozygous state and that both parents with a less severe deficiency were heterozygous for the trait. The defect is an autosomal disorder directly inherited. It is clinically apparent and easily detected only in the homozygous state. The heterozygous state is characterized by a very slight prolongation of the one-stage prothrombin time, the difference from the control value being so minimal as to be overlooked. In one subject studied, an aunt of the propositus, the quantitative defect (42% of normal) could not be regularly detected by the usual methods. Only by using the plasma of the propositus as the test plasma, was the defect in her plasma detected, thus explaining the transmission of the trait to her offspring. These findings explain the difficulties previously encountered in understanding the inheritance of the disorder.


2006 ◽  
Vol 17 (6) ◽  
pp. 695-705 ◽  
Author(s):  
Hideji HANABUSA ◽  
Kazushige OYAMA ◽  
Satoshi WATANABE ◽  
Yuzuru SAKAKIBARA ◽  
Yuji HIRAMATSU ◽  
...  

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