Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.
BACKGROUND
To explore the characteristics of laboratory examination and confirm the diagnosis of a patient with combined inherited FVII and FX deficiency after he ingested diphacinone rodenticide accidentally.


METHODS
The coagulant parameter screening tests and coagulation factor activities were tested many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members by DNA direct sequencing. 106 persons were selected as controls from routine health examinations.


RESULTS
After the patient was admitted to hospital, routine coagulation screening tests revealed the prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and low levels of vitamin K-dependent coagulation factors (FII, FVII, FIX, FX) activity, which was 102.4 seconds, 88.5 seconds, 7%, 3%, 8%, and 2%, respectively. During more than one year of treatment, the value of PT and APTT still showed significantly prolonged activity and FVII and FX activity levels were about 5%. While FII and FIX activity levels were in the normal range after 12 weeks of treatment. Two homozygous mutations, g.11267C>T of F7 gene resulting in the substitution Arg277Cys and g.28139G>T of F10 gene leading to the substitution Val384Phe, were identified in the patient. The patient's parents and sister was heterozygous for Arg277Cys and Val384Phe mutations. FVII and FX antigen levels in the patient were 7% and 30%, respectively.


CONCLUSIONS
There were many similarities in the characteristics of laboratory examination between combined inherited FVII and FX deficiency and acquired vitamin K deficiency. The best way to identify them was gene analysis.
Min
M
Li
Yanhui
Y
Jin
Mingshan
M
Wang
Yaosheng
Y
Xie
Hongxiang
H
Ding
D000293:Adolescent; D000328:Adult; D000925:Anticoagulants / Q000506:poisoning*; D001777:Blood Coagulation / Q000187:drug effects* / Q000235:genetics*; D001780:Blood Coagulation Tests; D004252:DNA Mutational Analysis; D003951:Diagnostic Errors; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010630:Phenindione / Q000031:analogs & derivatives* / Q000506:poisoning; D010641:Phenotype; D011237:Predictive Value of Tests; D012378:Rodenticides / Q000506:poisoning*; D014813:Vitamin K Deficiency / Q000097:blood / Q000139:chemically induced* / Q000175:diagnosis; D055815:Young Adult
D000925:Anticoagulants; D012378:Rodenticides; C100262:diphenadione; D010630:Phenindione; D005167:Factor VII; D005170:Factor X