Results of multicenter registry for patients with inherited factor VII deficiency in Turkey

Akdeniz, Aydan; Ünüvar, Ayşegül; Ar, Muhlis Cem; Pekpak, Esra; Akyay, Arzu; Mehtap, Özgür; Karadağ, Fatma Keklik; Acıpayam, Can; Doğan, Ali; Ekinci, Omer; Köker, Sultan Aydın; Albayrak, Canan; Demirci, Ufuk; Guney, Tekin; Kurt, Meltem; Karaman, Serap; Kimyon, Özge Şahin; Albayrak, Sinan; Öncül, Yurday; Ünal, Serkan; Şahin, Fahri; Tuna, Rümeysa; Zülfikar, Bulent; Apak, Burcu Belen; Ümit, Elif Gülsüm; Demir, Ahmet Muzaffer

doi:10.1080/00365513.2021.2013524

Cited by 4 publications

(2 citation statements)

References 25 publications

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“…It has been reported that the most common type of bleeding in RFD patients was mucosal bleeding, affecting 40% to 67.7%. [14][15][16] In the study of Akdeniz et al, most bleeds were of mucosal origin (67.7%). 14 Park et al reported that the most frequent symptoms were mucosal tract bleeding (40%) similarly.…”

Section: Discussionmentioning

confidence: 93%

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Rare factor deficiencies in children: A review of 23 cases from a single center

TERZİ

2023

Online Türk Sağlık Bilimleri Dergisi

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Objective: The prevalence of rare factor deficiency (RFD) is one in 500.000-2.000.000 in the general population. Different symptoms may occur from mild or moderate bleeding to severe and life-threatening bleeding. This study aimed to evaluate children with RFD in a single Turkish center. Materials and Methods: The records of children with RFD (Factor I, V, VII, X, XIII deficiency) were evaluated retrospectively. Results: Twenty-three cases (70% female) were reviewed. The mean age of patients was 9.52 years at review, and mean follow-up was 66.3 months. The most common factor (F) deficiencies were FVII (35%) and FX (35%). Parental consanguinity was present in 65%. The most common symptoms were mucocutaneous bleeding and epistaxis. Regarding treatment, fresh frozen plasma (FFP) was given to two patients, FXIII concentrate was given to one patient, and prothrombin complex concentrate (PCC) was given to two patients. Prophylaxis was started in patients with recurrent bleeding. Of the 16 receiving prophylaxis, three received FFP, seven received recombinant coagulation factor VIIa, and six received PCC. Conclusion: Treatment was given to a fifth of patients while nearly three-quarters received prophylaxis. As parental consanguinity was present in most of these patients, obtaining a detailed family history may aid in diagnosis.

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Section: Discussionmentioning

confidence: 93%

“…[14][15][16] In the study of Akdeniz et al, most bleeds were of mucosal origin (67.7%). 14 Park et al reported that the most frequent symptoms were mucosal tract bleeding (40%) similarly. 15 In the study of Gelen et al, this rate is 53%.…”

Section: Discussionmentioning

confidence: 93%

Rare factor deficiencies in children: A review of 23 cases from a single center

TERZİ

2023

Online Türk Sağlık Bilimleri Dergisi

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The History of Rare Bleeding Disorders

Dorgalaleh,

Tavasoli,

Hassani

et al. 2024

Semin Thromb Hemost

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Deficiencies in coagulation factors I (FI), FII, FV, combined FV and FVIII (CF5F8) and vitamin K-dependent coagulation factors FVII, FX, FXI, and FXIII have been referred to as rare bleeding disorders (RBDs), rare coagulation factor deficiencies (RCFDs), or recessively inherited coagulation disorders. Fibrinogen was most likely the first member of this group to be identified, with reports of its discovery spanning from 1859 to 1966. If not, then the first coagulation factor to be identified was prothrombin in 1894, and the last coagulation factor to be found was FX in 1956, about 60 years later. The first patient to be diagnosed with an RBD was a 9-year-old boy with afibrinogenemia in 1920 and the vitamin K-dependent coagulation factors deficiency was the most recent RBD in this group to be identified in a 3-month-old child in 1966. The initial therapeutic option for nearly all patients with RBDs was whole blood transfusion; this was replaced in 1941 by fresh frozen plasma (FFP), and then in later years by cryoprecipitate and coagulation factor concentrates. Fibrinogen concentrate was the first coagulation factor concentrate produced in 1956. Coagulation factor concentrate is now available for FI, FVII, FX, FXI, and FXIII; however, FFP and/or platelet transfusion are the only treatments available for FV deficiency. The only recombinant concentrates available for RBDs are for FVII and FXIII, which date from 1988 and the 2000s, respectively. Even though the clinical presentations, diagnosis, and management of lesser-known bleeding disorders have improved significantly in recent decades, more studies are needed to reveal the hidden aspects of these disorders in order to overcome diagnostic and therapeutic challenges and ultimately improve the quality of life for those who are affected.

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Rare Inherited Coagulation Deficiencies: A Single-Center Study

Terzi,

Hatipoğlu

2024

Journal of Pediatric Hematology/Oncology

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Background: Rare factor deficiency (RFD) is characterized by a deficiency of factor (F)I, FII, FV, FVII, FX, FXI, FXII, FXIII, or a combined deficiency of FV+FVIII or vitamin K-dependent factors. The prevalence of RFD ranges from 1/1,000,000 to 3,000,000. Combined deficiencies of vitamin K-related factors have been described in 30 families worldwide, and these patients can present with a wide range of clinical symptoms, from mucocutaneous bleeding to life-threatening symptoms such as central nervous system and gastrointestinal bleeding. Objective: This study aimed to contribute to the literature on RFD. Material and Methods: This retrospective study analyzed data from 43 children with RFD. Results: The most common factor deficiencies were FVII (n=13); whereas the other deficiencies were FI (n=1), FV (n=2), FV+FVIII (n=2), FX (n=6), FXI (n=5), FXII (n=9), FXIII (n=3), and vitamin K-dependent combined factor deficiency (n=2). Acute and severe bleeding was controlled by treatment in 6 patients, and 12 patients with recurrent bleeding symptoms received prophylaxis. RFDs were more common in regions with high rates of consanguineous marriage, and in our study, 16 (16/43) of the cases were found to have consanguineous marriages between parents. Conclusions: It is important to improve genetic counseling and access to testing for family members with RFD due to autosomal recessive inheritance. Delays in diagnosis and treatment and lack of adequate prevention are important risk factors for life-threatening bleeding.

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Results of multicenter registry for patients with inherited factor VII deficiency in Turkey

Cited by 4 publications

References 25 publications

Rare factor deficiencies in children: A review of 23 cases from a single center

Rare factor deficiencies in children: A review of 23 cases from a single center

The History of Rare Bleeding Disorders

Rare Inherited Coagulation Deficiencies: A Single-Center Study

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