scholarly journals A Rare Case of Bilateral Achilles Tendon Xanthomas in a Teenager, Successfully Treated with Tendon Sparing Technique

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
G. A. P. K. Appuhamy ◽  
B. M. Munasinghe ◽  
L. M. Soysa ◽  
D. Nelson ◽  
P. G. P. Ranmini ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
District General Hospital ◽  
Subtotal Resection ◽  
Resonance Imaging ◽  
Posterior Aspect ◽  
Case Presentation ◽  
Tendon Xanthoma

Background. Xanthoma of the Achilles tendon, even though being benign, is a surgically challenging orthopaedic condition. Causality is believed to be due to a pathological error in the metabolism of low-density lipoprotein and their resultant accumulation, as foam cells within the tendon. Tendon xanthomas are often found to accompany heterozygous familial hypercholesterolemia. Case Presentation. A 19-year-old girl presented to our institution (a District General Hospital), with soft tissue lumps over posterior aspect of the ankle on both sides for several years. She had noticed a rapid increase in size in recent 3 months and sought medical advice. During investigation, she was diagnosed having bilateral Achilles tendon xanthomas clinically, confirmed by ultrasound scan and magnetic resonance imaging, and familial hypercholesterolemia concomitantly. The former was managed with intralesion subtotal resection where the histology further confirmed the diagnosis. The patient was commenced on statins and followed up while assessing the functional outcome and recurrences up to 2 years, with favourable results. Conclusion. Subtotal resection of Achilles tendon xanthoma (tendon sparingly) offers cosmetically and functionally acceptable outcomes, with faster recovery and no recurrences over 2 years.

Hubungan Kadar Lipid Darah Dengan Degenerative Disc Disease Berdasarkan Klasifikasi Pfirrmann Menggunakan Magnetic Resonance Imaging Lumbosacral pada Pasien Nyeri Punggung Bawah

2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Ryan Indra ◽  
Muhammad Ilyas ◽  
Mirna Muis ◽  
Bachtiar Murtala ◽  
Andi Alfian ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Degenerative Disc Disease ◽  
Serum Lipid ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Resonance Imaging ◽  
Disc Disease ◽  
Degenerative Disc

Penelitian ini bertujuan mengetahui hubungan serum lipid darah dengan degenerative disc disease berdasarkan klasifikasi pfirrmann menggunakan magnetic resonance imaging lumbosacral pada pasien nyeri punggung bawah. Penelitian ini dilaksanakan di Departemen Radiologi RS. Dr. Wahidin Sudirohusodo Makassar mulai bulan Oktober 2018 sampai Januari 2019. Subjek sebanyak 52 orang dengan rentang usia 30 - 60 tahun. Metode yang digunakan adalah uji Spearman. Hasil penelitian menunjukkan terdapat korelasi antara kadar low-density lipoprotein (LDL) dan trigliserida serum dengan degenerative disc disease dengan nilai p=0.02 (p0.05). Semakin tinggi kadar LDL dan trigliserida maka derajat degerative disc disease cendereng semakin berat. Tidak terdapat korelasi antara HDL dengan degenerative disc disease. Secara statistik tidak terdapat korelasi antara kolesterol total dengan degenerative disc disease. Namun, didapatkan pada grafik nilai kolesterol total pada setiap derajat degenerative disc disease meningkat.

Clinical implications and outcomes of the ORION Phase III trials

2020 ◽  
Author(s):  
Julia Brandts ◽  
Kausik K Ray
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Phase Iii ◽  
Atherosclerotic Cardiovascular Disease ◽  
Low Density Lipoprotein Cholesterol ◽  
Clinical Safety ◽  
Phase Iii Trials ◽  
Phase Ii And Iii ◽  
Ongoing Phase

Inclisiran is a siRNA inhibiting hepatic PCSK9 synthesis. As a first-in-class therapy, inclisiran has been assessed within the ORION trial program for its low-density lipoprotein cholesterol (LDL-C) lowering efficacy and clinical safety. Phase II and III trials have shown that inclisiran lowers LDL-C by about 50% with an infrequent dosing schedule in patients with established atherosclerotic cardiovascular disease and those at high risk, including patients with heterozygous familial hypercholesterolemia. Ongoing Phase III trials will provide evidence on longer-term safety and effectiveness, and inclisiran’s efficacy in patients with homozygous familial hypercholesterolemia. Furthermore, the ORION-4 trial will assess inclisiran’s impact on cardiovascular outcomes.

scholarly journals The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 66
Author(s):  
Alexey Meshkov ◽  
Alexandra Ershova ◽  
Anna Kiseleva ◽  
Evgenia Zotova ◽  
Evgeniia Sotnikova ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Significant Proportion ◽  
Density Lipoprotein ◽  
Genetic Diagnostics ◽  
Atherosclerotic Cardiovascular Disease ◽  
Gene Variants ◽  
Systematic Analysis ◽  
Pcsk9 Gene ◽  
Cholesterol Levels

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood. The aim of this study is to present data on the spectrum of LDLR, APOB, and PCSK9 gene variants in a cohort of 595 index Russian patients with FH, as well as an additional systematic analysis of the literature for the period of 1995–2020 on LDLR, APOB and PCSK9 gene variants described in Russian patients with FH. We used targeted and whole genome sequencing to search for variants. Accordingly, when combining our novel data and the data of a systematic literature review, we described 224 variants: 187 variants in LDLR, 14 variants in APOB, and 23 variants in PCSK9. A significant proportion of variants, 81 of 224 (36.1%), were not described earlier in FH patients in other populations and may be specific for Russia. Thus, this study significantly supplements knowledge about the spectrum of variants causing FH in Russia and may contribute to a wider implementation of genetic diagnostics in FH patients in Russia.

scholarly journals Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data

2021 ◽  
Vol 10 (4) ◽  
pp. 749
Author(s):  
Fernando Sabatel-Pérez ◽  
Joaquín Sánchez-Prieto ◽  
Víctor Manuel Becerra-Muñoz ◽  
Juan Horacio Alonso-Briales ◽  
Pedro Mata ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Diagnostic Yield ◽  
Low Density Lipoprotein ◽  
Analytical Data ◽  
Genetic Diagnosis ◽  
Density Lipoprotein ◽  
Screening Strategy ◽  
Cascade Screening ◽  
Active Screening ◽  
Lipid Clinic

The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (n = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (p < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.

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