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Report of the fifth homozygous patient with factor VII Padua defect
Abstract:
A new patient with factor VII Padua abnormality is presented. The propositus is a 70 old man who showed a mild bleeding tendency characterized by occasional epistaxis and a laboratory pattern of prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII activity was 7% using rabbit brain thromboplastin and 105% of normal using ox-brain thromboplastin. Intermediate levels were found by using thromboplastin of human origin. Factor VII cross-reacting material was normal. Parents were not consanguineous but both came from the same area. Two children of the propositus were found, as expected, to be homozygous for the abnormality. No relationship could be traced between the propositus and the other homozygous patients already reported. However, the patient came from the same geographic area, namely the Piave river valley in northeastern Italy. The discovery of the present patient, the fifth in four years, indicates that the defect might be more frequent than originally assumed.
Insights
A new patient with factor VII Padua abnormality, a rare bleeding disorder, was identified. This finding suggests the condition may be more common than previously thought, especially in northeastern Italy.
Area of Science:
- Hematology
- Human Genetics
Background:
- Factor VII deficiency is a rare inherited bleeding disorder.
- Factor VII Padua abnormality is a specific genetic variant.
- Understanding the prevalence and geographic distribution is crucial for diagnosis.
Observation:
- A 70-year-old male presented with mild bleeding symptoms and a distinct laboratory profile.
- Prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time, and normal Thrombotest were noted.
- Factor VII activity varied significantly based on the thromboplastin source used (rabbit, ox, human).
Findings:
- The patient exhibited factor VII Padua abnormality with significantly reduced activity using rabbit brain thromboplastin.
- Normal Factor VII cross-reacting material indicated a functional defect rather than a complete absence.
- Homozygous inheritance was confirmed in two of the patient's children.
Implications:
- The identification of a fifth case suggests factor VII Padua abnormality may be underdiagnosed or more prevalent in specific populations.
- Geographic clustering in the Piave river valley, northeastern Italy, warrants further investigation.
- Increased awareness and targeted screening could improve diagnosis and management of this bleeding disorder.