Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis.

Xanthomas are important clinical manifestations of disordered lipid metabolism, which are mostly found in patients with familial hypercholesterolaemia (FH), an inherited disorder that is predominantly caused by mutations in the low-density lipoprotein receptor gene (LDLR). Tuberous and tendinous xanthomas with wide distribution and large size are rare; however, they may indicate the severity of FH, and tend to be found in homozygous FH. In this study, we investigated the clinical and genetic aspects of a young patient with FH presenting with multiple large masses in various locations. The lesions on the elbows and buttocks were locally excised and subsequently confirmed by biopsy to be xanthomas. Genetic analysis further confirmed that the patient was compound heterozygous for two mutations in both alleles of the LDLR gene. This rare case of compound heterozygous FH presenting with multiple large and widely distributed xanthomas provides a better understanding of FH and xanthomas.

Impact of delay after biopsy and post-biopsy haemorrhage on prostate cancer tumour detection using multi-parametric MRI: a multi-reader study.

AIM: To assess impact of haemorrhage and delay after biopsy on prostate tumour detection using multi-parametric (MP) magnetic resonance imaging (MRI) assessment. MATERIALS AND METHODS: Forty-four patients underwent prostate MRI at 1.5 T using a pelvic phased-array coil, including T1-weighted imaging (T1WI), T2-weighted imaging (T2WI), diffusion-weighted imaging (DWI), and dynamic contrast-enhanced (DCE) imaging, before prostatectomy. Three radiologists independently reviewed images during four sessions [T2WI, DWI, DCE, and all parameters combined (MP-MRI)] to assess for tumour in each sextant. In a separate session, readers reviewed T1WI to score the extent of haemorrhage per sextant. Accuracy was assessed using logistic regression for correlated data. RESULTS: There was no significant difference in accuracy between readers for any session (p ≥ 0.166), and results were averaged across the three readers for remaining comparisons. Accuracy was significantly greater for MP-MRI than for any parameter alone (p ≤ 0.020). For T2WI alone, there was a trend toward decreased sensitivity in sextants with extensive haemorrhage (p = 0.072). However, accuracy, sensitivity, and specificity were otherwise similar for sextants with and without extensive haemorrhage for all sessions (p = 0.192-0.934). No session showed a significant improvement in accuracy, sensitivity, or specificity in cases with delay after biopsy of over 4 weeks compared with shorter delay. CONCLUSION: Extensive haemorrhage and short delay after biopsy did not negatively impact accuracy for tumour detection using MP-MRI. Further studies using MP-MRI protocols and interpretation schemes from other institutions are required to confirm these observations.