Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.

We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consanguineous marriage. LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients. Mean LDL-C at the first presentation was 14.2±3.7 mmol/L, average Dutch lipid score was 20.9±6.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins ( 84%) and  PCSK9 inhibitors (32%). 48.6% had aortic stenosis, out of which 30% had severe aortic stenosis. Ten underwent aortic valve surgery (5 mechanical valve, 3 Ross procedure, 1 aortic valve repair, 1 bioprosthetic valve) and one had transcatheter aortic valve implantation (TAVI). Coronary artery bypass surgery (CABG) was performed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbidity and mortality, and benefit from a highly specialized multidisciplinary clinic to address their clinical needs. Although there are several therapeutic agents on the horizon, early diagnosis, and treatment of HoFH remain critical to optimize patient outcomes.

Correlation of TTG IgA Level with Small Intestinal Histopathological Changes for Celiac Disease among Adult Saudi Patients.

BACKGROUND AND OBJECTIVES: According to recent guidelines, a diagnosis of celiac disease (CD) can be made without a biopsy, especially in children. There are no enough studies despite high prevalence and differences in genetic, race, and cultures. Therefore, we examined the correlation between tissue transglutaminase (TTG) and duodenal biopsy changes in our region because we are identical and different from others in culture, environment, and habits, and the correlation is same as that in different regions. METHODS: A retrospective cohort study at the Ministry of National Guard Health Affaires (NGHA) health care facilities that are distributed throughout kingdom of Saudi Arabia from April 19, 2015, till March 29, 2018. This study used the BESTCARE system that includes data from all NGHA facilities; data from 513 patients with CD were collected. All patients diagnosed with celiac disease aged 15 years or more, confirmed by improvement on gluten-free diet (GFD), and were not on GFD before endoscopy or serology test or both of them were included in the study, and the TTG IgA level was measured at the same time or within 2-3 months of biopsy date. The exclusion criteria were negative duodenal biopsy, which is less than 2; patients with negative biopsy and negative serology; patients who were on GFD before testing, and any patients known to have immunity diseases or illness causing mucosal changes. The TTG IgA level was measured in IU/ mL and was labeled as negative (<20 IU/mL) and positive (≥ 20 IU/mL) based on the cutoff value. However, Intestinal biopsy findings were identified as Marsh classification groups. RESULTS: One hundred thirty-four patients who met the inclusion criteria were included in the study. Median age of our sample was 24 years (16-37 years). Among these, 99 (73.88%) were female patients, whereas male patients were only 35 (26.12%). Histopathologic investigation of intestinal biopsy were Marsh 0 group was 16 cases (11.9%), Marsh 1 group was 8 cases (6%), Marsh 2 group was 4 cases (3%), Marsh 3a group was 32 cases (23.9%), Marsh 3b group was 64 cases (47.8%), and Marsh 3c group was 10 cases (7.5%). The TTG IgA antibody serology groups were <20 IU/mL in 13 cases (9.7%) and ≥20 IU/mL in 121 cases (90.3%). Among all patients with CD who had negative biopsy (Marsh 0 group), 16 (100%) of them had positive TTG IgA antibody. However, among patients with Marsh 1 group biopsy, 5 (62.5%) cases had negative TTG IgA antibody compared with 3 (37.5%) positive cases. Of the four cases (100%) with Marsh 2 group, all of them had positive TTG IgA antibody. However, in Marsh 3a group biopsy, 3 (9.4%) cases had negative TTG IgA antibody compared with 29 (90.6%) cases with positive TTG IgA antibody. Furthermore, among the patients with Marsh 3b group biopsy, 5 (7.8%) had negative antibody and 59 (92.2%) had positive serology. Of all biopsies of Marsh 3c group, 10 (100 %) had positive TTG IgA antibody. CONCLUSIONS: In perspective of high prevalence of CD in KSA, even more than western countries, we can pretend that positive TTG antibody tests can be applied for the diagnosis of CD without biopsy, particularly in symptomatic patients along with high titer, that is, 5-10 times the upper limit of normal (ULN). However, to validate it further, we need larger prospective studies in which duodenal biopsies should be taken according to recommended protocol and should be interpreted by experienced pathologist. Furthermore, biopsy is still needed in patients who do not show clinical improvement on a gluten-free diet and in cases with mildly or moderately elevated TTG IgA.