{ "@context": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149", "id": "CG-AC:AC149", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "30126", "producedAtUTC": "Thu, 10 Sep 2026 19:38:45 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/co", "id": "CG-AC:AC149/co", "type": "GeneticCondition", "label": "F5: Factor V deficiency (AR)" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ou/Severe%20or%20prolonged%20hemorrhage", "id": "CG-AC:AC149/ou/Severe or prolonged hemorrhage", "type": "Outcome", "label": "Severe or prolonged hemorrhage" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/intv/Development%20and%20implementation%20of%20comprehensive%20management%20plan%20based%20on%20activity%20levels", "id": "CG-AC:AC149/intv/Development and implementation of comprehensive management plan based on activity levels", "type": "Intervention", "label": "Development and implementation of comprehensive management plan based on activity levels" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/cap", "id": "CG-AC:AC149/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Sun, 24 Mar 2024 00:00:00 -0000", "releaseNum": "1.3.4", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/en/ACMI2829", "id": "CG-AC:AC149/en/ACMI2829", "type": "EvidenceNarrative", "narrative": "Autosomal Recessive", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF000745", "CG-AC:RF000754", "CG-AC:RF000756" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/en/nh", "id": "CG-AC:AC149/en/nh", "type": "EvidenceNarrative", "narrative": "Congenital FV deficiency can manifest at any age, with the most severe forms manifesting in early life. Prognosis is good with early diagnosis and treatment. There is limited correlation between FV activity and severity of bleeding. Patients who come to medical attention are typically symptomatic homozygotes or compound heterozygotes with FV activity levels less than 5%. No clear ethnic predisposition is apparent. Data from registries indicate patients are more likely to have skin and mucocutaneous bleeding rather than hemarthroses. Women are at risk of bleeding complications during menstruation and childbirth. Menorrhagia is the most common bleeding symptom in women and may be the first or only presenting symptom. Heterozygotes often have approximately half-normal levels of coagulation factors and are usually asymptomatic, though there may be an increase in bleeding symptoms in carriers.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF000294", "CG-AC:RF000743", "CG-AC:RF000744", "CG-AC:RF000745", "CG-AC:RF000679" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/en/potgd", "id": "CG-AC:AC149/en/potgd", "type": "EvidenceNarrative", "narrative": "Factor V (FV) deficiency is a rare inherited bleeding disorder with a prevalence estimate of severe deficiency (homozygous or compound heterozygous) of 1 in 1,000,000. Approximately 200 patients with FV deficiency have been described in the literature.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF000294", "CG-AC:RF000743", "CG-AC:RF000744", "CG-AC:RF000745", "CG-AC:RF000679" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/en/cf", "id": "CG-AC:AC149/en/cf", "type": "EvidenceNarrative", "narrative": "Congenital FV deficiency is caused by alterations in the F5 gene resulting in reduced production of plasma coagulation FV; activated FV serves as an essential protein in the coagulation pathway. Common clinical signs include epistaxis, bruising, mucosal bleeding, and soft tissue bleeding. Excessive and prolonged bleeding during or following surgery, delivery or trauma are frequent. Women often present with menorrhagia. Less common are symptoms of joint, muscle, genitourinary, gastrointestinal, and intracranial bleeding.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF000743", "CG-AC:RF000744", "CG-AC:RF000746" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/CDEC3053", "id": "CG-AC:AC149/ten/CDEC3053", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "Congenital FV deficiency can manifest at any age, with intracranial hemorrhage possible as a first event, indicating a chance to escape clinical detection prior to diagnosis.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF000743", "CG-AC:RF000745" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/NOI3020", "id": "CG-AC:AC149/ten/NOI3020", "type": "TieredEvidenceNarrative", "narrative": "The interventions included in this report include treatments with potential risk and side effects. FFP, platelets, and other blood products carry risk of infection transmission. FFP carries risk of volume overload. Tranexamic acid carries risk of thrombosis.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF000743" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/REC2192", "id": "CG-AC:AC149/ten/REC2192", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "In the German cohort, 12 heterozygous patients were also reported with phenotype data available. Of these patients, 75% experienced at least one bleeding symptom, with 50% experiencing bleeding following invasive procedures, 25% experiencing hematoma, 17% experiencing epistaxis, 17% of females experiencing hypermenorrhea (although patient age was not reported), and 8% experiencing hematuria.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000756" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/REC2193", "id": "CG-AC:AC149/ten/REC2193", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "In the German cohort 9 patients with homozygous F5 pathogenic variants, 3 patients with compound heterozygous pathogenic variants and 1 patient with a pseudo-homozygous pathogenic variant in addition to Factor V Leiden were reported with bleeding phenotype data available. Of those patients who were homozygous or compound heterozygous (n = 12) for F5 pathogenic variants, 67% reported bleeding symptoms, with the remainder having no bleeding phenotype at the time of study. Bleeding symptoms included hematoma (50% of patients), bleedings following invasive procedures (42%), epistaxis (25%), menorrhagia (20% of females, although patient age was not reported), and severe bleedings (8%). The patient with a pseudo-homozygous genotype had no bleeding phenotype.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000756" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/REC2194", "id": "CG-AC:AC149/ten/REC2194", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "A North American cohort of 18 presumed homozygotes/compound heterozygotes (defined as FV<20%) with severe FV deficiency all had bleeding symptoms. Bleeding events were predominated by bleeding in skin and mucus membranes (44%), joints and muscles (23%), genitourinary (19%), and gastrointestinal tract (6%). Intracranial hemorrhage represented 8% of bleeding events. In the same North American cohort, 19 patients with a heterozygous FV deficiency (defined as FV≥20%) were also examined, and 50% were reported to be symptomatic with spontaneous bleeding events. Of those, bleeding events were predominated by skin and mucus membranes (62%), followed by musculoskeletal (19%) and genitourinary (19%).", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000745" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/REC2191", "id": "CG-AC:AC149/ten/REC2191", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "In the Iranian cohort (n=35, plasma levels 0-10%), 57% of patients had epistaxis and oral mucosa bleeding, 50% of the women had menorrhagia, 43% had postprocedural or postpartum bleeding, 29% had muscle hematomas, and 26% had hemarthroses. Gastrointestinal, genitourinary, and CNS bleeding episodes were each present in 6% of the patients.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000745" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/ACPE4540", "id": "CG-AC:AC149/ten/ACPE4540", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Three cohort studies of patients with FV deficiency have been reported from Iran, Korea, and Germany. The Iranian and Korean cohort were defined based on clinical Factor V levels, while the German cohort included genotype information.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/ten/EN3085", "id": "CG-AC:AC149/ten/EN3085", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "Patients with identical pathogenic variants or activity levels, including related patients with identical genotypes and equally low (<1%) FV activities, can vary greatly in their bleeding symptoms.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000745" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACCA3730", "id": "CG-AC:AC149/tr/ACCA3730", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Patients with untreated inherited bleeding disorders should not be offered prophylaxis (mechanical or pharmaceutical) for venous thrombotic embolism (VTE), unless the risk of VTE outweighs the risk of bleeding.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000753", "CG-AC:RF000755" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/REC3140", "id": "CG-AC:AC149/tr/REC3140", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "A case report of 4 homozygote women treated with oral contraception reported decrease in menorrhagia without complications. One woman treated for twenty years showed progressive reduction of menstrual cycle, decreased transfusional needs, and a steady increase of hematocrit.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000750" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/REC3142", "id": "CG-AC:AC149/tr/REC3142", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "FV deficiency is associated with post-partum hemorrhage (PPH). Cases have been described with patients with FV activity >0.1 IU/ml and severe bleeding; therefore, clinical history should be considered in addition to laboratory levels. Patients should be advised about the possibility of early and late PPH and instructed to report excessive postpartum bleeding immediately. In a case report of 3 pregnancies in 2 homozygous patients, prophylactic and continued treatment with FFP resulted in an uncomplicated Caesarean section in one patient. In the second patient, the condition was discovered due to excessive bleeding at delivery, successfully treated with whole blood and FFP postpartum. The authors also reviewed 18 successful pregnancies reported in the literature, 11 of which were accompanied by heavy bleeding requiring FFP or whole blood transfusion. The other 7 deliveries were uncomplicated due to successful prophylaxis.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000743", "CG-AC:RF000679", "CG-AC:RF000748" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/REC3141", "id": "CG-AC:AC149/tr/REC3141", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "Case reports were found for 3 pediatric cases of severe homozygous FV deficiency, totaling 13 surgeries in all that were successfully managed with prophylaxis (FFP, rFVIIa, tranexamic acid) and continued supplementation after surgery with FFP and platelets.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000747" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACCA3728", "id": "CG-AC:AC149/tr/ACCA3728", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Tranexamic acid is contraindicated for renal tract bleeding and in cases with high thrombotic risk.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000743" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACCA3729", "id": "CG-AC:AC149/tr/ACCA3729", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Aspirin and other NSAIDs are contraindicated in patients with inherited bleeding disorders because they can increase bleeding risk and prolong bleeding times.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF000276", "CG-AC:RF000748", "CG-AC:RF000749", "CG-AC:RF000751" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACPM6603", "id": "CG-AC:AC149/tr/ACPM6603", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Treatment of menorrhagia in women with inherited bleeding disorders should be individualized and managed with a multidisciplinary approach including a hematologist and gynecologist. In a survey by the Centers for Disease Control and Prevention, 95% (71 of 75) of women receiving care in hemophilia treatment centers reported a strong positive opinion and satisfaction.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000294", "CG-AC:RF000743", "CG-AC:RF000748", "CG-AC:RF000749" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACPM6604", "id": "CG-AC:AC149/tr/ACPM6604", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Pregnancy in women with inherited bleeding disorders may require a multidisciplinary approach. Women with severe bleeding disorders should deliver in a hospital or where there is access to consultants in obstetrics, anesthesiology, and hematology.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000748" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACPM6602", "id": "CG-AC:AC149/tr/ACPM6602", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Dental management in patients with inherited bleeding disorders should involve a liaison between a hemophilia center, hospital dentist, and general dental practice regarding the nature of the disorder, treatment plans, and risk of transfusion-transmitted infection. Treatment planning for procedures is essential for a good outcome.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000276" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACPM6605", "id": "CG-AC:AC149/tr/ACPM6605", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "There is currently no FV concentrate. For mild bleeding or minor surgery, consider tranexamic acid. For severe bleeding or major surgery, consider FV replacement with solvent detergent fresh frozen plasma (SD-FFP) and additional platelet transfusion. In an open label study of 41 treatment episodes in FV deficiency, SD-FFP increased FV activity and was effective for the treatment of spontaneous or traumatic bleeds and the prevention of surgical bleeds. Off-label recombinant factor VIIa (rFVIIa) was effective in cases with allergy to FFP or to avoid volume overload.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000743" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/tr/ACPM6606", "id": "CG-AC:AC149/tr/ACPM6606", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "In common with other heritable bleeding disorders, the treatment and prevention of bleeding in rare coagulation disorders requires general measures, such as selecting invasive procedures with minimum bleeding risk and ensuring adequate communication of treatment plans developed by hemophilia centers with appropriate expertise.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF000743" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei", "id": "CG-AC:AC149/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/nott", "id": "CG-AC:AC149/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pgd", "id": "CG-AC:AC149/oei/pgd", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC149/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/cf", "id": "CG-AC:AC149/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC149/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/nh", "id": "CG-AC:AC149/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC149/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/tmc", "id": "CG-AC:AC149/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/moi", "id": "CG-AC:AC149/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Recessive", "evidenceNarrative": { "@id": "CG-AC:AC149/en/ACMI2829" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pgm", "id": "CG-AC:AC149/oei/pgm", "type": "EvidenceItem" }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pe/ACPE4540", "id": "CG-AC:AC149/oei/pe/ACPE4540", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/ACPE4540" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pe/REC2191", "id": "CG-AC:AC149/oei/pe/REC2191", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/REC2191" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pe/REC2194", "id": "CG-AC:AC149/oei/pe/REC2194", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/REC2194" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pe/REC2193", "id": "CG-AC:AC149/oei/pe/REC2193", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/REC2193" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/pe/REC2192", "id": "CG-AC:AC149/oei/pe/REC2192", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/REC2192" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/oei/ex/EN3085", "id": "CG-AC:AC149/oei/ex/EN3085", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/EN3085" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei", "id": "CG-AC:AC149/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/aoi", "id": "CG-AC:AC149/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/noi/NOI3020", "id": "CG-AC:AC149/iei/noi/NOI3020", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC149/ten/NOI3020" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/eoi", "id": "CG-AC:AC149/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/ACPM6606", "id": "CG-AC:AC149/iei/pm/ACPM6606", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/ACPM6606" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/ACPM6605", "id": "CG-AC:AC149/iei/pm/ACPM6605", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/ACPM6605" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/REC3141", "id": "CG-AC:AC149/iei/pm/REC3141", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/REC3141" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/ACPM6602", "id": "CG-AC:AC149/iei/pm/ACPM6602", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/ACPM6602" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/ACPM6604", "id": "CG-AC:AC149/iei/pm/ACPM6604", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/ACPM6604" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/REC3142", "id": "CG-AC:AC149/iei/pm/REC3142", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/REC3142" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/ACPM6603", "id": "CG-AC:AC149/iei/pm/ACPM6603", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/ACPM6603" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149/iei/pm/REC3140", "id": "CG-AC:AC149/iei/pm/REC3140", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC149/tr/REC3140" } } ], "circumstanceToAvoid": [ { "@id": 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Guidance on the dental management of patients with haemophilia and congenital bleeding disorders. Br Dent J. (2013) 215(10):497-504.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=24264665", "xdbref": [ "PMID:24264665" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000294", "id": "CG-AC:RF000294", "type": "Publication", "publicationType": "PMID", "citation": "Lee CA, Chi C, Pavord SR, Bolton-Maggs PH, Pollard D, Hinchcliffe-Wood A, Kadir RA. The obstetric and gynaecological management of women with inherited bleeding disorders--review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors' Organization. Haemophilia. (2006) 12(4):301-36.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=16834731", "xdbref": [ "PMID:16834731" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000679", "id": "CG-AC:RF000679", "type": "Publication", "publicationType": "PMID", "citation": "Management of Inherited Bleeding Disorders in Pregnancy: Green-top Guideline No. 71 (joint with UKHCDO). BJOG. (2017) 124(8):e193-e263.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=28447403", "xdbref": [ "PMID:28447403" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000743", "id": "CG-AC:RF000743", "type": "Publication", "publicationType": "PMID", "citation": "Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J, Mainwaring J, Mathias M, O'Connell N. Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors' Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. (2014) 167(3):304-26.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=25100430", "xdbref": [ "PMID:25100430" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000744", "id": "CG-AC:RF000744", "type": "Publication", "publicationType": "Orphanet", "citation": "Congenital factor V deficiency. Orphanet encyclopedia [Internet]", "xdbref": [ "Orphanet:326" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000745", "id": "CG-AC:RF000745", "type": "Publication", "publicationType": "PMID", "citation": "Huang JN, Koerper MA. Factor V deficiency: a concise review. Haemophilia. (2008) 14(6):1164-9.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=19141156", "xdbref": [ "PMID:19141156" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000746", "id": "CG-AC:RF000746", "type": "Publication", "publicationType": "OMIM", "citation": "Online Medelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. Factor v deficiency. MIM: 2274002016 May 23. ", "webUrl": "https://www.omim.org/entry/227400", "xdbref": [ "OMIM:227400" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000747", "id": "CG-AC:RF000747", "type": "Publication", "publicationType": "PMID", "citation": "Mathias M, Tunstall O, Khair K, Liesner R. Management of surgical procedures in children with severe FV deficiency: experience of 13 surgeries. Haemophilia. (2013) 19(2):256-8.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=23173600", "xdbref": [ "PMID:23173600" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000748", "id": "CG-AC:RF000748", "type": "Publication", "publicationType": "PMID", "citation": "Demers C, Derzko C, David M, Douglas J. Gynaecological and obstetric management of women with inherited bleeding disorders. J Obstet Gynaecol Can. (2005) 27(7):707-32.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=16100628", "xdbref": [ "PMID:16100628" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000749", "id": "CG-AC:RF000749", "type": "Publication", "publicationType": "PMID", "citation": "Singh S, Best C, Dunn S, Leyland N, Wolfman WL. Abnormal uterine bleeding in pre-menopausal women. J Obstet Gynaecol Can. (2013) 35(5):473-475.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=23756279", "xdbref": [ "PMID:23756279" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000750", "id": "CG-AC:RF000750", "type": "Publication", "publicationType": "PMID", "citation": "Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. Haemophilia. (2005) 11(1):26-30.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=15660985", "xdbref": [ "PMID:15660985" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000751", "id": "CG-AC:RF000751", "type": "Publication", "publicationType": "Other", "citation": "true. Antithrombotics: indications and management. a national clinical guideline. Sign publication; no. 129. (2013) Accessed: 2017-11-10. ", "webUrl": "http://www.sign.ac.uk/assets/sign129.pdf" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000753", "id": "CG-AC:RF000753", "type": "Publication", "publicationType": "Other", "citation": "true. Venous thromboembolism in adults admitted to hospital: reducing the risk. Clinical guideline; no. 92. (2015) Accessed: 2017-11-10. ", "webUrl": "https://www.nice.org.uk/guidance/cg92" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000754", "id": "CG-AC:RF000754", "type": "Publication", "publicationType": "PMID", "citation": "Acharya SS, Coughlin A, Dimichele DM. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. (2004) 2(2):248-56.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=14995986", "xdbref": [ "PMID:14995986" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000755", "id": "CG-AC:RF000755", "type": "Publication", "publicationType": "Other", "citation": "true. Prevention and management of venous thromboembolism. Sign publication; no. 122. (2014) Accessed: 2017-11-10. ", "webUrl": "http://www.sign.ac.uk/assets/sign122.pdf" }, { "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/RF000756", "id": "CG-AC:RF000756", "type": "Publication", "publicationType": "PMID", "citation": "Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia. (2009) 15(5):1143-53.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=19486170", "xdbref": [ "PMID:19486170" ] } ] }