ABSTRACT
Thyroid storm (TS) is a rare and life-threatening medical emergency, most commonly caused by Graves' disease (GD). GD can be induced by immune reconstitution therapy (IRT) such as alemtuzumab (ALZ), a humanized monoclonal antibody against CD52, which is shown to be effective in the treatment of relapsing-remitting multiple sclerosis (RRMS). Here, we present a rare case of TS developing in a 39-year-old female with ALZ-induced GD, managed with antithyroid medication followed by thyroidectomy. There is some evidence that ALZ-induced GD may behave less aggressively than conventional GD. However, physicians should be aware that severe thyrotoxicosis and thyroid storm can happen, which requires prompt recognition and aggressive therapy.
ABSTRACT
Background Atrial fibrillation is the most common cardiac arrhythmia in clinical practice. It represents a significant health impact as it is greatly associated with increased risk of mortality and morbidity, most importantly stroke and systemic thromboembolism. Aim This study aims to determine the risk factors of atrial fibrillation, to identify stroke and bleeding risk factors among patients with atrial fibrillation, to assess the trend of stroke prevention management and the influence of CHA2DS2-VASc and HAS-BLED scores on choosing the treatment. Methods This study was performed using all the medical records of 395 patients with Atrial fibrillation who were admitted between 2011-2019 at King Fahd University Hospital, Al-Khobar, Saudi Arabia. The review process included demographic data of the patients and the calculation of stroke and bleeding risk by CHA2DS2-VASc and HAS-BLED scores. Results The median age of the population was 72 years old. Hypertension was the most common risk factor for atrial fibrillation (78.2%), followed by diabetes mellitus (61.0%), dyslipidemia (60.0%), coronary artery disease (41.0%), myocardial infarction (18.7%), and congestive heart failure (29.4%). Regarding the management, (42.5%) of the patients were on a combination of both anticoagulants and antiplatelet therapy, while (33.2%) were on anticoagulant therapy only, (17.5%) were on antiplatelets only, and (5.8%) were not on medication. The increased use of anticoagulants and combined therapy was related to the percentage of a high-risk group of thromboembolic events reaching up to (34.5%) and (45.7%), respectively, which is statistically significant. Moreover, the prescription of warfarin declined in the last five years of our study, while the use of non-vitamin K antagonist oral anticoagulants increased. Conclusion Atrial fibrillation is more prevalent in females, hypertension was the most common risk factor for atrial fibrillation, followed by diabetes mellitus, and dyslipidemia. Most of the studied population was categorized as a high risk of stroke and bleeding according to CHA2DS2-VASc and HAS- BLED scores. The majority of the atrial fibrillation patient were taking anticoagulants and combined treatment as a stroke prevention therapy. Non-vitamin K antagonist oral anticoagulant prescription increased over warfarin in recent years.
ABSTRACT
BACKGROUND: Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in Saudi Arabia, including the treatment and outcome. METHODS: We carried out a retrospective chart review analysis of 37 VLCAD deficiency patients from two tertiary centers in Saudi Arabia, over a 14-year period (2002-2016). Twenty-three patients were managed at King Abdul-Aziz Medical City and fourteen patients at King Fahad Medical City. RESULTS: Severe early onset VLCAD deficiency is the most frequent phenotype in our patients, caused by four different mutations in ACADVL; 31 patients (83.7%) had a homozygous nonsense mutation in exon 2 of ACADVL c.65C>A;p. Ser22X. Twenty-three patients died before the age of 2 years, despite early detection by newborn screening and implementation of treatment, including supplementation with medium chain triglycerides. CONCLUSION: This study reports the clinical, biochemical, molecular findings, treatment, and outcome of patients with VLCAD deficiency over the last 14 years. We identified the most common variant and one new variant in ACADVL. Despite early diagnosis and treatment, the outcome of VLCAD deficiency in this Saudi Arabian population remains poor. Preventive measures, such as prenatal diagnosis, could be implemented.
