The prevalence of HDP was relatively low in our cohort. However, to prevent harmful impacts on both the mother and fetus, screening for this disorder is recommended early in pregnancy.
Background:Familial hypercholesterolemia (FH) is a life-threatening inherited condition. Untreated patients have the risk to develop raised plasma levels of cholesterol, atherosclerosis and cardiovascular disease (CVD). If diagnosed and treated early in life, the pathological consequences due to atherosclerosis could be avoided and patients with FH can have an anticipated normal life. Mounting evidence suggests that FH is underdiagnosed and undertreated in all populations. The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9). However, their prevalence is largely unknown in Saudi Arabia but given the high rates of consanguinity, the prevalence appears to be higher. Furthermore, the high prevalence of obesity and diabetes mellitus in Saudi Arabia increases the vascular disease burden in FH cases by adding additional CVD risk factors.Objective:This article explores the spectrum of FH-causing mutations in the highly consanguineous Saudi community, the need for establishing the Saudi FH registry, the challenges in creating gene databases, and cascade screening.Conclusion:The establishment of FH registry and genetic testing should raise awareness not only among healthcare professionals, but the general population as well. It also helps to provide the best treatment regimen in a cost effective manner to this under-recognised population of FH patients.
Background\Aim:Consanguinity influences the phenotypic variations of some hereditary and immune-mediated disorders, including inflammatory bowel disease. This study estimated the prevalence of consanguinity among the ancestors of patients with inflammatory bowel disease and examined the effect of various consanguinity levels on inflammatory bowel disease onset.Patients and Methods:Patients with inflammatory bowel disease who were seen at two gastroenterology outpatient clinics were consecutively recruited and surveyed for demographics, disease onset, and presence of ancestral consanguinity within three generations. The prevalence of different consanguinity levels was calculated. The association between age at inflammatory bowel disease onset and consanguinity was examined.Results:Two hundred seventeen patients were recruited. The mean age, mean age at diagnosis, and mean illness duration were 32.9 ± 13.4, 18.6 ± 11.5, and 8.6 ± 7.7 years, respectively. Of the cohort, 53.5% were women, and 74.2% were native Saudis. Cigarette smoking was reported in 17.1%; 51% had Crohn's disease, while the remaining patients had ulcerative colitis. A family history of inflammatory bowel disease was reported in 29.5% of patients; consanguinity within three generations was reported in 57.6%. Consanguinity in more than one generation was reported in 38.7%; 17.5% had consanguinity in three consecutive generations. There was no association between inflammatory bowel disease onset and multi-generation consanguinity, but there was an association with disease subtype in favor of ulcerative colitis (b coefficient = 7.1 [95% confidence interval = 4.1, 10]).Conclusions:Consanguinity is extremely common among Saudi patients with inflammatory bowel disease but does not seem to influence age at disease onset. Genetic studies are needed to further clarify the effect of consanguinity on disease behavior.
Introduction: Blood transfusion practices affect both patient’s outcomes and utilization of institutional resources. Evidence shows that liberal blood transfusion has a detrimental effect on patient’s outcome. A restrictive approach of blood transfusion is recommended by current clinical guidelines. Aim: The aim of this study was to evaluate the attitudes, knowledge, and practices of general surgery (GS) staff and residents regarding peri-operative blood transfusion and anemia management. Material and Methods: A self-administered, web-based questionnaire was developed, and its link was sent to the emails of all general surgeons at King Abdul-Aziz University Hospital (KAUH), Jeddah city, Saudi Arabia. The questionnaire included four parts: 1) background of surgeons; 2) preoperative assessment and management of anemia; 3) post-operative blood transfusion and alternatives; and 4) enablers and barriers. Results: 56 surgeons responded to the questionnaire. We found variations in blood transfusion practices, notably the hemoglobin threshold. For stable non-cardiac cases, 7 g/dL was considered the threshold by 50% of respondents. For stable patients with past cardiac disease, a higher threshold was chosen by most (9 g/dL by 43% and 10 gm/dL by 21%). Most respondents believed that transfusion had no effect on the risk of survival (73%) and on the risk of cancer recurrence (55%) after oncologic surgical resection. Recognized facilitators were the availability of scientific evidence (84%), medicolegal concerns (57%), preference (52%), and institutional protocols (50%). Conclusion: Although current clinical guidelines recommend a restrictive transfusion practice, most respondents tended to over-order blood for elective procedures and were not aware of the potential complications of liberal blood transfusion. To implement the restrictive transfusion policies, health institutions should improve the awareness of surgeons and incorporate a strong supporting evidence in formulating local institutional guidelines.
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