Gaps in the Care of Subjects with Familial Hypercholesterolemia: Insights from the Thai Familial Hypercholesterolemia Registry.

AIMS: Familial hypercholesterolemia (FH) is currently underdiagnosed and undertreated. The establishment of a FH registry could facilitate a deeper understanding of this disease. We described the clinical characteristics of subjects with FH from the Thai FH Registry, compared our data with the regional and global data, and identified gaps in the care of these subjects. METHODS: A multicenter, nationwide prospective FH registry was established in Thailand. Our data were compared with those of the European Atherosclerosis Society-FH Studies Collaboration. Multiple logistic regression analyses were performed for variables associated with lipid-lowering medication (LLM) use and the attainment of low-density lipoprotein-cholesterol (LDL-C) goal. RESULTS: The study includes 472 subjects with FH (mean age at FH diagnosis: 46±12 years, 61.4% women). A history of premature coronary artery disease was found in 12%. The percentage of LLM use in subjects with a Dutch Lipid Clinic Network score of ≥ 6 (probable or definite FH) in our registry (64%) was slightly lower than the regional data but higher than the global data. Among those who received statins, 25.2% and 6.4% achieved LDL-C levels of ＜100 mg/dL and ＜70 mg/dL, respectively. Women with FH were less likely to achieve LDL-C ＜70 mg/dL (adjusted odds ratio: 0.22, 95% confidence interval: 0.06-0.71, p=0.012). CONCLUSIONS: FH in Thailand was diagnosed late, and treatment was inadequate for the majority of subjects. Women with FH were less likely to achieve LDL-C goals. Our insights could potentially help raise awareness and narrow the gap in patient care.

Coexistence of Graves' disease and unilateral functioning Struma ovarii: a case report.

BACKGROUND: Coexisting of Graves' disease and functioning struma ovarii is a rare condition. Although the histology of struma ovarii predominantly composed of thyrocytes, the majority of the patients did not have thyrotoxicosis. The mechanism underlying the functioning status of the tumor is still unclear but the presence of thyroid stimulating hormone receptor (TSHR) is thought to play a role. Here we describe the patient presentation and report the TSHR expression of the tumor. CASE PRESENTATION: A 56-year old Asian woman presented with long standing thyrotoxicosis for 23 years. She was diagnosed with Graves' disease and thyroid nodules. She had bilateral exophthalmos and had high titer of plasma TSHR antibody. Total thyroidectomy was performed and the histologic findings confirmed the clinical diagnosis. The patient had persistent thyrotoxicosis postoperatively. Thyroid uptake demonstrated the adequacy of the thyroid surgery and the whole body scan confirmed the presence of functioning thyroid tissue at pelvic area. The surgery was scheduled and the patient had hypothyroidism after the surgery. The pathological diagnosis was struma ovarii at right ovary. We performed TSHR staining in both the patient's struma ovarii and in 3 cases of non-functioning struma ovarii. The staining results were all positive and the intensity of the TSHR staining of functioning struma ovarii was the same as that in other cases of non-functioning tumors, suggesting that the determinant of functioning struma ovarii might be the presence of TSHR stimuli rather than the intensity of the TSHR in the ovarian tissue. CONCLUSION: In patients with Graves' disease with persistent or recurrent thyrotoxicosis after adequate ablative treatment, the possibility of ectopic thyroid hormone production should be considered. TSHR expression is found in patients with functioning and non-functioning struma ovarii and cannot solely be used to determine the functioning status of the tumor.

Malignant hypertension due to a large reninoma: a case report.

A thirty-year-old-man was admitted due to visual loss from malignant hypertension. Hypokalemia and urinary potassium loss were found. Plasma renin activity (PRA) and aldosterone were investigated and found to be elevated compatible with secondary hyperaldosteronism. A computed tomography of the abdomen showed a 11.7 x 11.3 x 12 cm ill-defined, nonhomogeneous mass at the middle part of right kidney. The preoperative diagnosis was renal cell carcinoma and the patient underwent right radical nephrectomy. Following nephrectomy, plasma PRA and plasma aldosterone levels declined and serum potassium level returned to normal. A reninoma is a rare benign renal neoplasm arising from juxtaglomerular apparatus. The tumor produces an excessive amount of renin resulting in secondary hyperaldosteronism, thereby causing hypertension with hypokalemia. The authors describe a case of reninoma in a young man, who presented with malignant hypertension and the largest reninoma ever reported.

Primary hyperparathyroidism due to cystic parathyroid adenoma: a case report.

Raw Cystic parathyroid adenoma is a rare cause of primary hyperparathyroidism. The authors report one case of cystic parathyroid adenoma, who presented with progressive right hip pain for one year. The patient had severe hypercalcemia at the first presentation and was misdiagnosed as having metastatic cancer at first. An iliac bone biopsy was performed and showed a giant cell tumor. Parathyroid hormone level was evaluated later and was found to be high, 1,555 pg/ml (15-65 pg/ml). An MRI study of the neck was done and revealed a cystic mass 38 x 36 x 40 mm in diameter just below the left lower pole of the thyroid gland. Tc-99m MIBI scan demonstrated increase and retention of radioactivity uptake at the same area. Hyperfunctioning parathyroid gland was considered. Parathyroidectomy was done and histopathology revealed cystic parathyroid adenoma. Serum calcium was normal and hip pain was markedly improved after the surgery.