Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis

Takeuchi, Yumiko; Saito, Yuki; Ikenouchi, Hiroshi; Sugimoto, Tsuneaki; Sugoh, Teruko; Sakata, Y; Matsuda, Michio; Takahashi, Osamu

doi:10.1016/0049-3848(88)90055-2

Cited by 7 publications

(2 citation statements)

References 24 publications

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“…A Chinese study proposed that 13q33.1-34 deletions might be related to cardiac development [14]. In the contrary, combined protein C deficiency and congenital factor VII deficiency has been described in a single study [15], the gene for protein C is encoded in chromosome 2, hence the combination of both is random. A number of studies listed in Table 2 [9,13,[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] have shown unique combinations of factor VII deficiency and different associations with no evident explanation.…”

Section: Discussionmentioning

confidence: 99%

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child

Almadani¹,

Alzahrani²,

Asiri³

et al. 2020

J Med Cases

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Section: Discussionmentioning

confidence: 99%

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child

Almadani¹,

Alzahrani²,

Asiri³

et al. 2020

J Med Cases

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“…Factor VII is probably the most frequent among the rare coagulation disorders [4,5,6,7]. It has been described mainly in association with FV, FVIII or other clotting factors and with several bilirubin metabolism disorders [8,9,10,11,12,13,14,15,16,17,18,19,20,21]. The significance of these associations is not always clear.…”

Section: Introductionmentioning

confidence: 99%

Congenital Combined Defects of Factor VII: A Critical Review

Girolami¹,

Ruzzon²,

Tezza³

et al. 2006

Acta Haematol

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Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.

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Combined inherited protein s and heparin co-factor II deficiency in a patient with upper limb thrombosis: A family study

Simioni¹,

Zanardi²,

Prandoni

et al. 1992

Thrombosis Research

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Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis

Cited by 7 publications

References 24 publications

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child

Congenital Combined Defects of Factor VII: A Critical Review

Combined inherited protein s and heparin co-factor II deficiency in a patient with upper limb thrombosis: A family study

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