Successful Liver Transplantation for a Child With Life-Threatening Recurrent Bleeding Episodes Due to Congenital Factor X Deficiency: A Case Report

Bang, Sung-Hwan; Oh, Seak Hee; Kim, K.M.; Song, Shaoming; Seo, Jun-Won; Yoo, Hwang-Jae; Kim, T.H.; Kim, D.Y.; Lee, S.G.

doi:10.1016/j.transproceed.2012.01.075

Cited by 7 publications

(9 citation statements)

References 4 publications

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“…In total, 332 women were identified; 30 women in 30 case reports (Table ) and 302 women in 19 case series. In the case reports, the FX coagulant activity was <0.01 IU/mL in 14 women, 0.01‐0.05 IU/mL in 8 women and >0.05 IU/mL in four women, and in four women, the severity of FX deficiency was not mentioned . In the case series, 63 patients had FX coagulant activity ≤0.01 IU/mL, 95 patients >0.01 IU/mL (range 0.01‐0.26) and in the rest FX level was not reported.…”

Section: Resultsmentioning

confidence: 97%

“…Flow diagram of literature review TA B L E 2 Obstetric and gynaecological bleeding episodes in women with FX deficiency severity of FX deficiency was not mentioned 3,[32][33][34]. In the case series, 63 patients had FX coagulant activity ≤0.01 IU/mL, 95 patients >0.01 IU/mL (range 0.01-0.26) and in the rest FX level was not reported.Heavy menstrual bleeding was a common bleeding symptom reported in 72/284 (25%) in total, 14/30 (47%) in case reports,3,7,9,14,15,17,19,22,23,[25][26][27][35][36][37] and 58/254 (23%) in 11 case series38,39 (Table 2).…”

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confidence: 99%

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Congenital Factor X deficiency in women: A systematic review of the literature

Spiliopoulos

Kadir

2019

Haemophilia

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Factor X deficiency (FXD) is a rare autosomal recessive bleeding disorder with a variable phenotypic severity. In women, heavy menstrual bleeding (HMB), recurrent ovulation bleeding with haemoperitoneum and bleeding complications in pregnancy such as retroplacental haematoma and postpartum haemorrhage have been reported. The aim of this review was to examine gynaecological problems and obstetric complications in women with congenital FXD. A total number of 49 relevant articles were identified, including 332 women, dating from 1960 to 2018. Heavy menstrual bleeding was reported in 72/284 (25%) women in total, 14/30 (47%) in case reports and 58/254 (23%) in 11 case series, 64% and 10% required blood products and blood transfusion, respectively. Haemoperitoneum from ovulation bleeding or ruptured haemorrhagic ovarian cyst requiring blood transfusion occurred in 8/322 (2.4%) women, six required surgical intervention, including oophorectomy in two. 31 pregnancies were reported in 19 women. There were four miscarriages (including a late miscarriage at 21 weeks). There was a high rate of preterm birth and neonatal death occurring in eight (30%) and three (11%) of pregnancies reaching viability stage. Postpartum haemorrhage (PPH) occurred in six (22%) of deliveries, one requiring hysterectomy. In conclusion, women with FXD are at an increased risk of heavy bleeding during menstruation and ovulation as well as adverse pregnancy outcome and postpartum haemorrhage. Collaboration in a multidisciplinary team including an obstetrician/gynaecologist, a perinatologist and a haematologist is necessary for the prevention and management of these complications.

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Section: Resultsmentioning

confidence: 97%

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confidence: 99%

Congenital Factor X deficiency in women: A systematic review of the literature

Spiliopoulos

Kadir

2019

Haemophilia

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“…50 So far at least two patients with congenital FX deficiency have undergone the procedure. 51,52 The first transplant was reported in 1996 in a 54-year-old male patient who had also hepatitis C liver cirrhosis. The FX level was 31% before the event, became normal after transplantation, and remained so for at least a 6-month follow-up.…”

Section: Conditionmentioning

confidence: 99%

“…The procedure was successful also in this case. 52 This possibility to normalize FX levels in FX-deficient people represents another advance in the story of FX, despite the limitations and the costs of the procedure.…”

Section: Conditionmentioning

confidence: 99%

Complex History of the Discovery and Characterization of Congenital Factor X Deficiency

Girolami

Cosi

Sambado

et al. 2015

Semin Thromb Hemost

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Factor X (FX) plays a pivotal role in blood coagulation. FX represents the point where all coagulation systems converge and, once activated, it converts prothrombin into thrombin. The discovery and definition of FX are based on the description between 1956 and 1957 about three patients and their families with a peculiar defect later demonstrated to be almost identical. These patients were an American (Mr. Stuart), a British (Ms. Prower), and a Swiss with Italian background (infant Delia B). We stated "almost identical" because immunological and molecular biology studies subsequently revealed that even though the basic clotting defect was identical, the FX protein level and the mutation were different in each case. Mr. Stuart had no FX protein in his plasma and the mutation was Val298Met (homozygote). Ms. Prower instead had a normal level of FX protein and the mutation was Arg287Trp + Asp282Asn (compound heterozygote). Unfortunately, the status of the Swiss patient in this regard is not known. Subsequent studies described a few major variants (FX Friuli, FX Melbourne, FX Padua, and other similar patients), which showed peculiar activation patterns (FX Friuli had a normal Russell viper venom clotting time; FX Melbourne was defective only in the intrinsic coagulation system; FX Padua, on the contrary, was defective only in the extrinsic coagulation system). All these studies have informed on the great heterogeneity and complexity of the FX defect. The story of the discovery and classification of FX deficiency has contributed considerably to our understanding of blood coagulation. The three original families and the families of the major variants, together with the researchers that discovered them, should be remembered with deep respect and gratitude.

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“…Liver transplantation in one case of FX deficiency has been reported and was associated with subsequent normalization of FX levels and no bleeding problems [39].…”

Section: Liver Transplantation For Factor X Deficiencymentioning

confidence: 99%

Factor X and Factor X Deficiency

Perry

2014

Textbook of Hemophilia

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Successful Liver Transplantation for a Child With Life-Threatening Recurrent Bleeding Episodes Due to Congenital Factor X Deficiency: A Case Report

Cited by 7 publications

References 4 publications

Congenital Factor X deficiency in women: A systematic review of the literature

Congenital Factor X deficiency in women: A systematic review of the literature

Complex History of the Discovery and Characterization of Congenital Factor X Deficiency

Factor X and Factor X Deficiency

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