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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

Factor VII Deficiency: A Rare Case Report.

Ramanath Mahale¹, Pankaj Rathi, Chetan Ginegiri

¹Department of Pediatrics, Narayana Hrudayalaya Institute of Medical Sciences, Narayana Hrudayalaya Children's Hospital, Anekal Taluk, Bommasandra Indusrial Estate, Bangalore, India.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion

|June 2, 2011

Summary

This summary is machine-generated.

Factor VII deficiency, a rare bleeding disorder, can be indicated by prolonged prothrombin time. This case highlights the critical need for prompt factor VII level testing in neonates presenting with sepsis and coagulopathy.

Keywords:

Congenital coagulopathy Factor VII deficiency Intracranial hemorrhage

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Area of Science:

Hematology
Pediatrics
Genetics

Background:

Factor VII deficiency is a rare inherited bleeding disorder.
It is characterized by prolonged prothrombin time (PT) with a normal partial thromboplastin time (PTT).
Definitive diagnosis requires specific measurement of factor VII activity levels.

Observation:

A 20-day-old female infant presented with sepsis.
Initial hematological tests showed a prolonged PT and significantly low factor VII level (9%).
The infant received antibiotics and fresh frozen plasma (FFP).

Findings:

Clinical improvement was noted after FFP transfusion, but PT remained prolonged.
The patient experienced a fatal intracranial hemorrhage on the seventh day post-discharge.
This underscores the potential severity and complications of undiagnosed or inadequately treated factor VII deficiency.

Implications:

Early and accurate diagnosis of factor VII deficiency is crucial in neonates, especially those with sepsis.
Standard coagulation tests may not fully capture the bleeding risk in factor VII deficiency.
Prompt factor replacement therapy, guided by specific factor levels, is essential for managing bleeding events and preventing fatal outcomes.