Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel.

We present clinical practice guidelines for the diagnosis and treatment of homozygous familial hypercholesterolaemia (HoFH) in the Middle East region. While guidelines are broadly applicable in Europe, in the Middle East we experience a range of confounding factors that complicate disease management to a point whereby the European guidance cannot be applied without significant modification. Specifically, for disease prevalence, the Middle East region has an established epidemic of diabetes and metabolic syndrome that can complicate treatment and mask a clinical diagnosis of HoFH. We have also a high incidence of consanguineous marriages, which increase the risk of transmission of recessive and homozygous genetic disorders. This risk is further augmented in autosomal dominant disorders such as familial hypercholesterolaemia (FH), in which a range of defective genes can be transmitted, all of which contribute to the phenotypic expression of the disease. In terms of treatment, we do not have access to lipoprotein apheresis on the same scale as in Europe, and there remains a significant reliance on statins, ezetimibe and the older plasma exchange methods. Additionally, we do not have widespread access to anti-apolipoprotein B therapies and microsomal transfer protein inhibitors. In order to adapt existing global guidance documents on HoFH to the Middle East region, we convened a panel of experts from Oman, Saudi Arabia, UAE, Iran and Bahrain to draft a regional guidance document for HoFH. We also included selected experts from outside the region. This panel statement will form the foundation of a detailed appraisal of the current FH management in the Middle Eastern population and thereby provide a suitable set of guidelines tailored for the region.

Unusual cause of ectopic secretion of adrenocorticotropic hormone: Cushing syndrome attributable to small cell prostate cancer.

OBJECTIVE: To report a rare cause of ectopic adrenocorticotropic hormone (ACTH) secretion leading to severe Cushing syndrome. METHODS: We describe the clinical presentation and management of a case of Cushing syndrome attributable to ectopic ACTH secretion from small cell cancer of the prostate. RESULTS: In a 70-year-old man with hypertension and diabetes, congestive heart failure developed. He was found to have severe hypokalemia (serum potassium, 1.7 mEq/L) and a huge pelvic mass on a computed tomographic scan performed because of a complaint of urinary retention. Transurethral biopsy of the prostate showed features of small cell prostate cancer. Hormonal evaluation revealed a high urine free cortisol excretion of 6,214.5 microg/d (reference range, 36 to 137), confirming the diagnosis of Cushing syndrome. A serum ACTH level was elevated at 316 ng/dL (reference range, 10 to 52). An overnight high-dose (8 mg orally) dexamethasone suppression test was positive (serum cortisol levels were 43.2 and 41 microg/dL before and after suppression, respectively), and magnetic resonance imaging of the pituitary gland disclosed no abnormalities. A prostate biopsy specimen showed small cell prostate cancer with positive staining for ACTH. The tumor was found to be unresectable, and the poor condition of the patient did not allow for bilateral adrenalectomy. He was treated with ketoconazole and metyrapone, which yielded good temporary control of his Cushing syndrome (24-hour urine free cortisol decreased to 55.2 microg/d). He received 1 cycle of chemotherapy (etoposide and cisplatin), but he died 6 months later as a result of sepsis. CONCLUSION: Small cell prostate cancer is a rare subtype that can be associated with ectopic secretion of ACTH and severe Cushing syndrome. With this subtype of prostate cancer, Cushing syndrome should be considered and appropriately managed.

Laparoscopic vs. open adrenalectomy: experience at King Faisal Specialist Hospital and Research Centre, Riyadh.

BACKGROUND: The laparoscopic approach for adrenalectomy is now widely accepted and preferred over the conventional open approach. We describe our experience of adreanalectomy and compare the results of open and laparoscopic approach. PATIENTS AND METHODS: From March 1999 to March 2002, we performed 23 adrenalectomies. An anterior transabdominal approach was used for the open procedure, and a lateral transperitoneal approach for the laparoscopic procedure. Data from both groups were analyzed and compared. RESULTS: There was no difference in tumor size or pathology between two groups. The tumor size was smaller, operative time was longer and estimated blood loss was less in the laparoscopic procedure group, however these differences were statistically insignificant. The mean length of hospital stay was shorter (5.1 vs. 9.2 days, P<0.01), the mean use of postoperative narcotic analgesia was less (4.2 vs. 8.1 injections, P<0.05), and the mean time for resumption of oral intake was faster (1.17 vs. 2 days, P<0.01) in the laparoscopic procedure group compared to the open adrenalectomy group. CONCLUSION: Laparoscopic adrenalectomy is a safe procedure that can be performed for most adrenal pathology. It is associated with faster recovery, less postoperative pain, and shorter hospital stay.