Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population.

Background Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially fatal condition caused by high immune activation. The present study aimed to identify the clinical manifestations, geographic distribution, and associated pathogenic genetic mutations of HLH in Saudi Arabia. Method A retrospective cross-sectional study was conducted at King Fahad Medical City (KFMC), with a total of 59 patients diagnosed with HLH in the period between 2006 and 2018. All genetic results and clinical and biochemical data were retrieved and statistically analyzed using IBM SPSS Statistics for Windows, Version 25 (Released 2017; IBM Corp., Armonk, New York, United States). Results The results revealed that 48 patients (81.4%) had 15 pathogenic mutations of primary HLH whereas 8 (13.6%) patients had no genetic mutation. The most common variant mutation identified was c.1430C>T of the STXBP2 gene (42.4% of total patients), followed by c.1122G>A of the PRF1 gene (10.2% of patients), which demonstrated a distinctive geographic and tribal association. Patients with RAB27A mutation tend to present at an older age than the others with a median age of presentation of 5.5 months vs 2 months for patients with PRF1 mutations. No significant differences in clinical features were observed among the various groups. Conclusion This study highlights the incidence of genetic mutations among the Saudi population with HLH. The STXBP2 is the most common mutation followed by PRF1 mutations, many mutation variants are associated with a distinctive tribal and geographic association.

Epidemiologic Pattern and Types of Oral Smokeless Tobacco Usage in Saudi Arabia.

Aim: Smokeless tobacco (ST) use is a significant health risk and cause of disease. Most studies conducted in the Kingdom of Saudi Arabia (KSA) focused on cigarette smoking. Therefore, the objective was to study the epidemiologic pattern and types of oral ST usage in northern and western Saudi Arabia. Materials and methods: A total of 428 volunteers living in three cities (Hail, Mecca, and Tabuk) were investigated. All of the study subjects were currently ST users of one type or more, including toombak, shammah, pan masala (PM), Afdhal, Nashooq, and others. Results: Most of the study population were found to use toombak representing 127/428 (29.7%), followed by shammah, PM, Afdhal, Nashooq, Adani, Qat, Majun, and others, representing 67/428 (15.7%), 66/428 (15.4%), 44/428 (10.3%), 36/428 (8.4%), 32/428 (7.5%), 23/428 (5.4%), 22/428 (5.1%), 21/428 (4.9%), and 13/428 (3%) respectively. Conclusion: This survey showed a high prevalence of existing ST usage among foreign workers and Saudis, which can establish a prospective public health problem. Clinical significance: Smokeless tobacco cessation is a crucial element of tobacco control policy since it is the most important determinant of many diseases, including oral cancer. Keywords: Kingdom of Saudi Arabia, Oral cancer, Pan masala, Shammah, Smokeless tobacco, Toombak.