Background The presence of tendon xanthomas, defined as thickening or nodularities of tendons, is subjective and remains largely undetected in patients with familial hypercholesterolemia (FH) in clinical practice. This study aimed to determine Achilles tendon thickness cutoff values associated with the highest diagnostic accuracy for identifying FH among Thai patients. Methods 63 subjects with possible, probable or definite FH according to the Dutch Lipid Clinic Network criteria, 58 subjects with hypercholesterolemia not compatible with FH and 55 normolipidemia subjects were recruited. Achilles tendon thickness was measured on each side separately at the point of maximum thickness using Lange skinfold calipers, Slim Guide skinfold calipers, plain radiograph of lateral ankles and ultrasonography. Ultrasonographic characteristics of the tendons were also recorded. The diagnostic performance of the maximum Achilles tendon thickness (maximum value of either left or right Achilles tendon of each person) obtained by each method was determined by Receiver-Operating Characteristic curves and optimal cut-points determined by Youden's index. Spearman rank-order correlation coefficient assessed factors associated with Achilles tendon thickness. Results Of all subjects, the mean age was 47 (±13) years, and 45% were male. The study groups were comparable in baseline characteristics except for a higher LDL cholesterol burden, a longer duration of lipid lowering therapy and a higher percentage of subjects receiving high intensity statins and ezetimibe in the FH group. Both types of skinfold calipers demonstrated 61% accuracy for diagnosing FH. An anteroposterior (AP) diameter on plain radiographs ≥7.7 mm had an 80% accuracy with 75% sensitivity and 82% specificity, whereas ultrasonographic thickness ≥6.4 mm. showed a 76% accuracy with 46% sensitivity and 93% specificity. Tendon border irregularities, diffuse hypoechogenicity and calcification were reported in a higher percentage of patients with FH, compared with the other 2 groups. Factors showing a significant correlation with Achilles tendon thickness in the FH group were years since FH diagnosis, a higher Dutch Lipid Clinic Network score and a higher body mass index (BMI). In the overall cohort, factors showing a significant correlation were higher LDL cholesterol burden and higher BMI. Conclusion Achilles tendon thickness measured by calipers showed low accuracy for FH diagnosis. An AP diameter on plain radiographs demonstrated highest sensitivity, whereas ultrasonographic thickness and area of Achilles tendon showed high specificity. Tendon irregularities, diffuse hypoechogenicity and calcification might serve as supportive findings. Presentation: No date and time listed
Background: Adrenocortical carcinoma (ACC) is a rare and fatal endocrine malignancy. This retrospective review aims to investigate treatment outcomes and clinical characteristics of 18 patients diagnosed with ACC at King Chulalongkorn Memorial Hospital from 2009 to 2018. Methods: We reviewed medical records regarding the presenting symptoms, hormonal investigations, imaging results, staging, modalities of treatment and outcomes. Results: Of the 18 patients, 14 patients were female (77%). The median age at diagnosis was 47.5 years [interquartile range (IQR) 39.5-58.2]. Mass effects and/or hormonal hypersecretion were the most common presentation, documented in 7 (38%) and 6 (33%) patients respectively. Autonomous adrenal hormone excess was found in 10 patients (56%). Cushing’s syndrome and elevated dehydroepiandrosterone sulphate (DHEAS) were documented in 9 (50%) and 7 patients (41%) respectively. Mineralocorticoid excess was found in 1 patient (6%). At initial staging, 9 patients (50%) were in advance or metastatic stage. Surgery was performed in 17 patients (94%) and 13 patients (76%) were in remission. However, recurrence was observed in 6 patients (33%), with the median disease-free interval of 13.5 months (IQR 12.0-25.0 months). In patients with stage 2 disease, open surgery resulted in longer disease-free interval despite larger tumor size, compared with laparoscopic surgery. Final outcomes revealed that 8 patients (44%) had remission, 2 patients (11%) had persistent disease and 6 patients (33%) died. Combination therapy (adrenalectomy, radiation, medications and local control such as metastatectomy, radiofrequency ablation and transarterial chemoembolization) was documented in 11 patients (61%). All patients with remission received complete tumor resection and presented at early stages of cancer, with the majority of them having non-functioning tumors. The median follow-up time was 34 months (IQR 9-73). Conclusions: ACC is a rare and fatal disease with high mortality rates. Diagnosis is time-sensitive and requires multimodality approach.
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