Congenital deficiency of coagulation factor VII in an Icelandic family

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenCongenital deficiency of coagulation factor VII is a rare autosomal and usually recessive genetic bleeding disorder which has been discovered in an Icelandic family. The propositus is a male who experienced intermittent painful inflammation of his ankle joints at the age of 9-10 and later also in his knees, elbow, shoulder, and wrist. Smaller joints were spared, serologies for rheumatoid disease were negative. He was treated for rheumatoid arthritis with limited results and became practically invalid due to his arthritis at the age of 40. At the age of 57, a surgical synovectomy of his knee joint was complicated by postoperative bleeding, and signs of chronic haemorrhagic arthritis were noted in the synovia. Subsequently, a marked prolongation of his prothrombin time and a near total deficiency of coagulation factor VII were discovered. All of his nine siblings were deficient in coagulation factor VII, three of them markedly deficient like the proband and six moderetely deficient. The pattern of inheritance suggests that one of their parents was heterozygous and the other homozygous or doubly heterozygous of genetic deficiency of coagulation factor VII. The parents were second cousins. Of the siblings, only the propositus had a bleeding tendency or arthritis. No evidence of such symptoms in their parents or grandparents was found. This family is the only Icelandic family with congenital deficiency of coagulation factor VII known to the authors.Lýst er sjaldgæfum blæðingasjúkdómi, ættgengum skorti á storkuþætti VII, í íslenskri fjölskyldu. Sjúkdómurinn erfist ókynbundið og yfirleitt víkjandi þannig að einkenni koma sjaldan fram nema þegar báðir erfðastofnarnir sem tjá storkuþátt VII eru gallaðir og mikill skortur er á storkuþætti VII. Tíu systkini reyndust öll hafa skort á storkuþætti VII. Fjögur höfðu skort á háu stigi og voru þess vegna sennilega með galla í báðum erfðastofnunum. Sex höfðu miðlungsskort og voru því sennilega með annan erfðastofninn eðlilegan en hinn gallaðan. Þetta bendir til þess að annað foreldri þeirra hafi haft galla í báðum erfðastofnum sínum en hitt aðeins í öðrum. Foreldrar þeirra voru þremenningar að skyldleika. Aðeins eitt af systkinunum hafði staðfesta blæðingahneigð. Það var karlmaður sem fékk endurteknar liðblæðingar frá barnsaldri og varð að lokum óvinnufær vegna liðskemmda. Ekkert af hinum systkinunum hafði greinileg merki um blæðingahneigð og engar sagnir voru um blæðingahneigð hjá forfeðrum eða formæðrum þeirra. Höfundum er ekki kunnugt um að þessi sjúkdómur hafi fundist hjá öðrum Íslendingum

Comparison of medication adherence to different oral anticoagulants : population-based cohort study

Publisher Copyright: © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.OBJECTIVE: Previous observational studies have yielded conflicting results on whether medication adherence differs between patients receiving warfarin and direct oral anticoagulants (DOACs). Importantly, no study has adequately accounted for warfarin dosing being continuously modified based on INR values while dosing of DOACs is fixed. We aimed to compare non-adherence between new users of apixaban, dabigatran, rivaroxaban and warfarin in a population-based cohort. METHODS: New users of apixaban, dabigatran, rivaroxaban and warfarin from 2014 to 2019 living in the Icelandic capital area were included. Non-adherence was defined as proportion of days covered below 80%. Inverse probability weighting was used to yield balanced study groups and non-adherence was compared using logistic regression. Factors associated with non-adherence were estimated using multivariable logistic regression. RESULTS: Overall, 1266 patients received apixaban, 247 dabigatran, 1566 rivaroxaban and 768 warfarin. The proportion of patients with non-adherence ranged from 10.5% to 16.7%. Dabigatran was associated with significantly higher odds of non-adherence compared with apixaban (OR 1.57, 95% CI 1.21 to 2.04, p<0.001), rivaroxaban (OR 1.45, 95% CI 1.12 to 1.89, p=0.005) and warfarin (OR 1.63, 95% CI 1.23 to 2.15, p<0.001). The odds of non-adherence were similar for apixaban, rivaroxaban and warfarin. Apart from the type of oral anticoagulants (OACs) used, female sex, hypertension, history of cerebrovascular accident and concomitant statin use were all independently associated with lower odds of non-adherence. CONCLUSION: Dabigatran was associated with higher odds of non-adherence compared with other OACs. Non-adherence was similar between apixaban, rivaroxaban and warfarin users. Female sex and higher comorbidity were associated with better medication adherence.Peer reviewe

Congenital deficiency of coagulation factor VII in an Icelandic family

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenCongenital deficiency of coagulation factor VII is a rare autosomal and usually recessive genetic bleeding disorder which has been discovered in an Icelandic family. The propositus is a male who experienced intermittent painful inflammation of his ankle joints at the age of 9-10 and later also in his knees, elbow, shoulder, and wrist. Smaller joints were spared, serologies for rheumatoid disease were negative. He was treated for rheumatoid arthritis with limited results and became practically invalid due to his arthritis at the age of 40. At the age of 57, a surgical synovectomy of his knee joint was complicated by postoperative bleeding, and signs of chronic haemorrhagic arthritis were noted in the synovia. Subsequently, a marked prolongation of his prothrombin time and a near total deficiency of coagulation factor VII were discovered. All of his nine siblings were deficient in coagulation factor VII, three of them markedly deficient like the proband and six moderetely deficient. The pattern of inheritance suggests that one of their parents was heterozygous and the other homozygous or doubly heterozygous of genetic deficiency of coagulation factor VII. The parents were second cousins. Of the siblings, only the propositus had a bleeding tendency or arthritis. No evidence of such symptoms in their parents or grandparents was found. This family is the only Icelandic family with congenital deficiency of coagulation factor VII known to the authors.Lýst er sjaldgæfum blæðingasjúkdómi, ættgengum skorti á storkuþætti VII, í íslenskri fjölskyldu. Sjúkdómurinn erfist ókynbundið og yfirleitt víkjandi þannig að einkenni koma sjaldan fram nema þegar báðir erfðastofnarnir sem tjá storkuþátt VII eru gallaðir og mikill skortur er á storkuþætti VII. Tíu systkini reyndust öll hafa skort á storkuþætti VII. Fjögur höfðu skort á háu stigi og voru þess vegna sennilega með galla í báðum erfðastofnunum. Sex höfðu miðlungsskort og voru því sennilega með annan erfðastofninn eðlilegan en hinn gallaðan. Þetta bendir til þess að annað foreldri þeirra hafi haft galla í báðum erfðastofnum sínum en hitt aðeins í öðrum. Foreldrar þeirra voru þremenningar að skyldleika. Aðeins eitt af systkinunum hafði staðfesta blæðingahneigð. Það var karlmaður sem fékk endurteknar liðblæðingar frá barnsaldri og varð að lokum óvinnufær vegna liðskemmda. Ekkert af hinum systkinunum hafði greinileg merki um blæðingahneigð og engar sagnir voru um blæðingahneigð hjá forfeðrum eða formæðrum þeirra. Höfundum er ekki kunnugt um að þessi sjúkdómur hafi fundist hjá öðrum Íslendingum

Rivaroxaban Is Associated With Higher Rates of Gastrointestinal Bleeding Than Other Direct Oral Anticoagulants : A Nationwide Propensity Score-Weighted Study.

To access publisher's full text version of this article click on the hyperlink belowBackground: Gastrointestinal bleeding (GIB) rates for direct oral anticoagulants (DOACs) and warfarin have been extensively compared. However, population-based studies comparing GIB rates among different DOACs are limited. Objective: To compare rates of GIB among apixaban, dabigatran, and rivaroxaban. Design: Nationwide population-based cohort study. Setting: Landspítali-The National University Hospital of Iceland and the 4 regional hospitals in Iceland. Patients: New users of apixaban, dabigatran, and rivaroxaban from 2014 to 2019. Measurements: Rates of GIB were compared using inverse probability weighting, Kaplan-Meier survival estimates, and Cox regression. Results: In total, 2157 patients receiving apixaban, 494 patients receiving dabigatran, and 3217 patients receiving rivaroxaban were compared. For all patients, rivaroxaban had higher overall rates of GIB (3.2 vs. 2.5 events per 100 person-years; hazard ratio [HR], 1.42 [95% CI, 1.04 to 1.93]) and major GIB (1.9 vs. 1.4 events per 100 person-years; HR, 1.50 [CI, 1.00 to 2.24]) compared with apixaban. Rivaroxaban also had higher GIB rates than dabigatran, with similar point estimates, although the CIs were wider and included the possibility of a null effect. When only patients with atrial fibrillation were included, rivaroxaban was associated with higher rates of overall GIB than apixaban (HR, 1.40 [CI, 1.01 to 1.94]) or dabigatran (HR, 2.04 [CI, 1.17 to 3.55]). Dabigatran was associated with lower rates of upper GIB than rivaroxaban in both analyses. Limitations: Unmeasured confounding and small subgroup analyses. Conclusion: Rivaroxaban was associated with higher GIB rates than apixaban and dabigatran regardless of treatment indication.Icelandic Centre for Research Landspitali University Hospital Research Fun