Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH. Therefore, in the interests of both economics and preservation of life, disease prevention via genetic screening and counselling is rapidly becoming a key element in the overall management of HoFH. Guidelines are available to assist diagnosis and treatment of HoFH; however, while advancements have been made in the management of the disease, there has been little systematic attention paid to prevention. Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions - chiefly due to consanguinity. This has led to the establishment of regional lipid clinics and awareness programs that have thrown education and awareness of HoFH into sharp focus. Incorporation of principles of prevention, education, awareness, and data from real-world use of existing therapeutics will significantly enhance the effectiveness of future guidelines for the management of HoFH, particularly in the MENA region.

Treatment of renal calculi by lithotripsy: minimizing short-term shock wave induced renal damage by using antioxidants.

Treatment with extracorporeal shock wave lithotripsy (ESWL), the preferred method of treating kidney stones <3 cm in size, has been shown to induce silent and often self-limiting acute and chronic lesions in the kidneys and adjacent organs. We conducted a randomized clinical trial to determine whether ESWL produces ischaemia and reperfusion injury in the kidneys and whether oral administration of antioxidants reduces the degree of short-term renal injury in patients treated with ESWL. The study included 120 patients with renal stones (1-3 cm in size) treated with ESWL. The patients were divided into three groups--patients in group A (n=39) served as a control group and were not given any antioxidants; patients in group B (n=41) were given two capsules of antioxidants "Nature Made R: " 2 h before ESWL, and 2 and 8 h after ESWL; and patients in group C (n=40) were given two capsules of the antioxidants 2 and 8 h after ESWL. Double 'J' stents were inserted in patients before treatment with ESWL. Blood and urine samples were obtained from all patients just before the start of treatment with ESWL, and at 2 and 24 h and on 7th and 28th day after ESWL. Serum levels of malondialdehyde (MDA), alpha-tocopherol, cholesterol, albumin and ascorbic acid, and alpha-tocopherol/cholesterol ratio were determined. Urinary levels of albumin and beta(2) microglobulin were also determined as measures of renal tubular injury. At 24 h after ESWL, patients given antioxidants (groups B + C) had significantly reduced mean serum concentration of MDA (P<0.001); higher levels of serum ascorbic acid (P<0.001) and serum albumin (P<0.001); lower alpha-tocopherol/cholesterol ratio, lower urinary albumin and beta(2 )microglobulin levels compared with patients who did not receive antioxidants (group A). These findings suggest that treatment with ESWL generates free radicals through ischaemic/reperfusion injury mechanism, and that oral administration of antioxidant may protect these patients from short term renal injury caused by ESWL.