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CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 2  |  Page : 108-110

Management of an infant with congenital Factor VII deficiency presenting with obstructed inguinal hernia


Department of Paediatric Surgery, Pediatrics and Hemophilia Unit, B J Government Medical College and Sassoon Hospital, Pune, Maharashtra, India

Date of Web Publication10-Apr-2018

Correspondence Address:
Dr. Minakshi Bhosale
G/101, Sudarshan Apartments, Behind Spencer's Daily, Karvenagar, Pune - 411 052, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_14_18

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  Abstract 


Surgery on an infant with factor VII deficiency is a risky affair, more so when the infant is premature and low birth weight. A 2-month-old infant with factor VII deficiency presented with obstructed right inguinal hernia. He had features suggestive of intestinal obstruction. The hernia was reduced, and the infant was initially managed conservatively. He was operated upon after 72 h under cover of recombinant activated factor VII concentrate to control the bleeding and was closely monitored for bleeding in the postoperative period. After confirming optimal wound healing and no recurrence on 6-month follow-up, contralateral herniotomy for a reducible inguinal hernia was performed at the age of 9 months. Even on thorough literature search, no references have been found on the management of an infant with this rare coagulation disorder undergoing herniotomy during early infancy. Hence, the case is being reported.

Keywords: Congenital factor VII deficiency, hemorrhagic disorder, herniotomy, obstructed inguinal hernia, preterm baby, recombinant activated factor VII


How to cite this article:
Bhosale M, Salvi S, Kulkarni R, Rangarajan S. Management of an infant with congenital Factor VII deficiency presenting with obstructed inguinal hernia. J Clin Neonatol 2018;7:108-10

How to cite this URL:
Bhosale M, Salvi S, Kulkarni R, Rangarajan S. Management of an infant with congenital Factor VII deficiency presenting with obstructed inguinal hernia. J Clin Neonatol [serial online] 2018 [cited 2020 Sep 30];7:108-10. Available from: http://www.jcnonweb.com/text.asp?2018/7/2/108/229667




  Introduction Top


Congenital factor VII (CFVII) deficiency or Alexander's disease is a rare hemorrhagic disorder with varying clinical severity. It is an autosomal recessive disorder with prevalence of 1 in 300,000–500,000.[1] The affected individual can develop excessive bleeding during and after surgery, making the surgery more risky compared to nonaffected counterparts. We performed bilateral herniotomy on a Neonatal Intensive Care Unit (NICU) graduate at 2 and 9 months under cover of recombinant activated factor VII (rFVIIa) alone, without fresh frozen plasma (FFP) or blood transfusion. Recombinant FVIIa was well tolerated and maintained effective hemostasis during and after both surgeries. This article aims to describe the peri- and postoperative management of this infant using rFVIIa.


  Case Report Top


A male neonate was delivered to an elderly mother at 34-week gestational age by lower segment cesarean section (LSCS) in view of maternal pregnancy-induced hypertension and oligohydramnios. Mother had received steroids before LSCS. The infant was the second issue, born to parents with third-degree consanguineous marriage. His birth weight was 1475 g. In view of gastrointestinal (GI) tract bleeding and deranged coagulation profile during NICU stay for preterm care, he was investigated and diagnosed to have factor VII deficiency with levels <0.1. His serum fibrinogen levels were 214 mg/dl, prothrombin time (PT) was 108/11.2, INR was 9.6, and activated partial thromboplastin time (APTT) was 37.5/30.2. He received FFP transfusion in view of GI bleed, which settled over a period of 24 h. He had weight gain of 400 g over 4 weeks and was discharged from NICU on day 25 of life.

He presented at the age of 2 months (42-week gestational age) with right-sided inguinal swelling of 15-day duration. The swelling appeared on crying and disappeared once the baby was quiet. He was referred to our center, a tertiary care institute for herniotomy. The infant weighed 2.5 kg. Fifteen days later, he presented with a large irreducible right inguinal swelling with signs of intestinal obstruction. The hernia could be reduced on sustained gentle pressure. Intestinal obstruction was managed conservatively. However, he developed hematuria upon Foley catheterization and received rFVIIa for management of the same. Right herniotomy was done 72 h later, by Mitchell-Banks' technique under general anesthesia. The sac was simply divided and proximal end transfixed using 2-0 silk. Reducible contralateral hernia was left untouched. Surgery was performed under cover of rFVIIa at the rate of 15 μg/kg/dose every 4 hourly with PT monitoring on day 1. It was given at 6 hourly intervals on day 2 and repeated after every 8 h on day 3. He was managed in dedicated pediatric ICU. Postoperatively, he had 2–3 fever spikes which responded to IV Piperacillin and Tazobactam. He was discharged on day 10 of admission.

He was on regular follow-up at 15-day interval to detect recurrence of hernia on the operated side and signs of irreducibility on the opposite side. Wound healing was good, and there was no recurrence of hernia on 6-month follow-up. Hence, at the age of 9 months, herniotomy was performed on the left side under cover of rFVIIa. Postoperative course after second surgery was uneventful. At present, 6 months following the second surgery, his wound has healed well, he is thriving well, has achieved age-appropriate milestones, and is on regular follow-up.


  Discussion Top


Activated blood coagulation factor VII (FVIIa) is one of the important proteins in the coagulation cascade. Normal levels of FVIIa range from 5 to 15 ng/ml. Factor VII deficiency disorder is caused by quantitative or qualitative defects in factor VII protein. Although rare, CFVII deficiency affects both males and females. It is found more frequently in areas of the world where marriage between close relatives is common. Clinical presentation ranges in severity from lethal to mild or even asymptomatic forms.[2],[3],[4] Symptoms are usually linked to the level of FVII in the blood. Severe bleeding is caused with factor VII activity <0.01 μg/ml. Infants with CFVII deficiency are often diagnosed within first 6 months of life, after sustaining a bleed either as intracranial hemorrhage or bleeding from the GI tract.[2],[3],[4]

The diagnosis of FVII deficiency relies on the discordance between the prolonged PT and the normality of APTT. Prolongation of INR may be from moderate (1.5–1.8) to high (>2.0), depending on plasma FVII coagulant levels.[2] Diagnosis can be confirmed by FVII assay. Among the several treatment options available for the management of acute bleeding in patients with CFVII deficiency such as rFVIIa, factor VII concentrate, prothrombin complex concentrate containing factor VII, and FFP, rFVIIa is considered the optimal replacement therapy. FVIIa being an enzyme, it can be used at a low dose (15–30 μg/kg body weight).[5] However, due to short half-life, more than one daily dose is required. Vascular thrombosis is the main complication reported.

Our patient was diagnosed to have FVII deficiency during early neonatal period (36-week gestational age). He presented with GI tract bleeding and had documented factor VII deficiency with levels <0.1%. In the series presented by Ragni et al., of 138 patients reported to have FVII deficiency, only 75 were considered to have a true deficiency. There was a 1:1 sex distribution with 19% incidence of consanguinity in the 63 families which these 75 patients represented.[6] In our case, the parents had third-degree consanguineous marriage. Kim et al. have presented an account of eight operations performed successfully without any complications.[1] In this study, FVII activity levels were between 0.6% and 7% (mean 2%). The operations performed include four orthopedic procedures, 1 tonsillectomy and 3 dental extractions. The mean duration of hospitalization was 8.5 days. Recombinant FVIIa was administered preoperatively and for 48 h postoperatively. In addition, blood and FFP transfusion was also given.[1] Duration of hospitalization was 10 days for our patient, and he received only rFVIIa preoperatively and for 48 h postoperatively. This case is presented since we could achieve effective hemostasis both pre- and postoperatively by the use of rFVIIa alone, without the use of FFP or blood transfusion as previously reported.

Acknowledgment

We gratefully acknowledge the valuable support of Dr. Dileep Kadam, Ex-HOD, Department of Medicine, BJGMC and SGH, Pune, and Dr. Sunil Lohade, Hemophilia Consultant at SGH, Pune, and Vice President Hemophilia Society of Maharashtra – Pune Chapter in managing this case.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kim SH, Park YS, Kwon KH, Lee JH, Kim KC, Yoo MC, et al. Surgery in patients with congenital factor VII deficiency: A single center experience. Korean J Hematol 2012;47:281-5.  Back to cited text no. 1
    
2.
Triplett DA, Brandt JT, Batard MA, Dixon JL, Fair DS. Hereditary factor VII deficiency: Heterogeneity defined by combined functional and immunochemical analysis. Blood 1985;66:1284-7.  Back to cited text no. 2
    
3.
Roberts HR, Escobar MA. Less common congenital disorders of hemostasis. In: Kitchens CS, Alving BM, Kessler CM, editors. Consultative Hemostasis and Thrombosis. Philadelphia, PA: WB Saunders; 2002. p. 57.  Back to cited text no. 3
    
4.
Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005;93:481-7.  Back to cited text no. 4
    
5.
Mariani G, Konkle BA, Ingerslev J. Congenital factor VII deficiency: Therapy with recombinant activated factor VII – A critical appraisal. Haemophilia 2006;12:19-27.  Back to cited text no. 5
    
6.
Ragni MV, Lewis JH, Spero JA, Hasiba U. Factor VII deficiency. Am J Hematol 1981;10:79-88.  Back to cited text no. 6
    




 

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