Management of intracranial hemorrhage in severe factor V deficiency and definitive treatment with liver transplantation

DesPain, Angelica W.; Kshetrapal, Anisha; Kousa, Youssef A.; Guelcher, Christine; Yazigi, Nada; Gonzalez, Corina E.; Nguyen, Vina P.; Kroemer, Alexander; Kaufman, Stuart S.; Guerrera, Michael F.

doi:10.1111/petr.13102

Cited by 10 publications

(10 citation statements)

References 15 publications

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“…Studies have reported that liver transplantation might be a good option for patients with severe FV deficiency. Liver transplantation should be considered in the early stages of severe FV deficiency or during the first life‐threatening bleeding event 10,11 . Liver transplantation is the most effective radical cure available at present, but its risks and costs are also not affordable for ordinary people.…”

Section: Discussionmentioning

confidence: 99%

Congenital coagulation factor V deficiency with intracranial hemorrhage

Yang

Mao

Sun

2022

Clinical Laboratory Analysis

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Background Congenital coagulation factor V (FV) deficiency is a very rare hemorrhagic disease with an incidence of approximately one in a million. The common clinical manifestations of FV deficiency include ecchymosis and mucosal bleeding. Life‐threatening intracranial bleeding is rare. It has been reported in several cases. However, the molecular basis has been established in only a few cases. Methods We reported a 2‐month‐old girl with congenital FV deficiency and intracranial hemorrhage. Coagulation screening combined with clinical manifestations was performed to diagnose congenital FV deficiency. Genetic testing was performed to identify the pathogenic genes. A literature review was included to emphasize the clinical manifestation, diagnosis, and treatment for congenital FV deficiency with intracranial bleeding. Results The coagulation tests revealed a significantly prolonged prothrombin time (PT) of 51 s and an activated partial thromboplastin time (APTT) of 73.7 s. The patient had a plasma FV activity of 0.9%. Genetic testing showed compound heterozygous mutations of the patient's FV gene. A literature review showed that patients with homozygous or compound heterozygous variants of the FV gene were often associated with a severe bleeding phenotype. Conclusion Our study provides a direction for the rapid and accurate diagnosis and treatment for FV deficiency to avoid life‐threatening bleeding. Infants with spontaneous cranial hematoma and intracranial hemorrhage should be investigated for underlying hemostatic defects. Congenital coagulation factor deficiency should be considered. Once congenital FV deficiency is diagnosed, fresh frozen plasma (FFP) should be given on a regular basis. Liver transplantation may be performed in severe cases.

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Section: Discussionmentioning

confidence: 99%

Congenital coagulation factor V deficiency with intracranial hemorrhage

Yang

Mao

Sun

2022

Clinical Laboratory Analysis

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“…6 Orthotopic liver transplantation as curative treatment for FV deficiency has been described in two prior case reports. 7,8 We present a case of a 2-year-old male with severe FV deficiency, who initially presented on Day 7 of life with bleeding from the umbilical stump. Initial evaluation showed prolonged prothrombin time (PT; 56.6 seconds), international normalised ratio (INR; 5.8), and partial thromboplastin time (PTT; 127 seconds), with an FV activity level less than 1%.…”

Section: Recovery Of Factor V Activity Is Delayed With Reperfusion In...mentioning

confidence: 99%

Recovery of factor V activity is delayed with reperfusion injury after liver transplant

Thakkar,

Saini,

Stoll

et al. 2023

Pediatric Blood & Cancer

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“…Platelet transfusion can be effective for the treatment of acute ICH since approximately 18 to 25% of FV is stored in the platelets. 89 FFP, still used in developing countries, has certain drawbacks. Prothrombin complex concentrate (PCC) is another option, containing a higher concentration of FVII.…”

Section: Ich Management In Rare Bleeding Disordersmentioning

confidence: 99%

Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders

Dorgalaleh

Farshi

Haeri

et al. 2022

Semin Thromb Hemost

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Intracerebral hemorrhage (ICH) is the most dreaded complication, and the main cause of death, in patients with congenital bleeding disorders. ICH can occur in all congenital bleeding disorders, ranging from mild, like some platelet function disorders, to severe disorders such as hemophilia A, which can cause catastrophic hemorrhage. While extremely rare in mild bleeding disorders, ICH is common in severe coagulation factor (F) XIII deficiency. ICH can be spontaneous or trauma-related. Spontaneous ICH occurs more often in adults, while trauma-related ICH is more prevalent in children. Risk factors that can affect the occurrence of ICH include the type of bleeding disorder and its severity, genotype and genetic polymorphisms, type of delivery, and sports and other activities. Patients with hemophilia A; afibrinogenemia; FXIII, FX, and FVII deficiencies; and type 3 von Willebrand disease are more susceptible than those with mild platelet function disorders, FV, FXI, combined FV–FVIII deficiencies, and type 1 von Willebrand disease. Generally, the more severe the disorder, the more likely the occurrence of ICH. Contact sports and activities can provoke ICH, while safe and noncontact sports present more benefit than danger. An important risk factor is stressful delivery, whether it is prolonged or by vacuum extraction. These should be avoided in patients with congenital bleeding disorders. Familiarity with all risk factors of ICH can help prevent occurrence of this diathesis and reduce related morbidity and mortality.

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Management of intracranial hemorrhage in severe factor V deficiency and definitive treatment with liver transplantation

Cited by 10 publications

References 15 publications

Congenital coagulation factor V deficiency with intracranial hemorrhage

Congenital coagulation factor V deficiency with intracranial hemorrhage

Recovery of factor V activity is delayed with reperfusion injury after liver transplant

Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders

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