Familial Hypercholesterolemia

Bouhairie, Victoria Enchia; Goldberg, Anne C.

doi:10.1016/j.ccl.2015.01.001

Cited by 97 publications

(82 citation statements)

References 55 publications

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“…He has not undergone genetic testing. Low LDL-C level ruled out the possibility of familial hypercholesterolemia [ 9 ]. Considering his family history, hereditary disorders causing hypertriglyceridemia, such as familial chylomicronemia, familial hypertriglyceridemia, familial combined hyperlipidemia, and familial dysbetalipoproteinemia, are possible [ 10 – 14 ].…”

Section: Case Presentationmentioning

confidence: 99%

Xanthogranulomatosis of the spleen: a case report

et al. 2018

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BackgroundXanthogranulomatous inflammation is recognized as a subtype of cholecystitis; however, it can also occur in other organs. Xanthogranulomatosis of the kidney, bone, ovary, endometrium, vagina, prostate, lymph nodes and pancreas was reported. Herein, we report a case of laparoscopic splenectomy in a patient with xanthogranulomatosis of the spleen that was difficult to diagnose preoperatively.Case presentationA 63-year-old man with a past medical history of hyperlipidemia had gradually growing multiple splenic masses, which were revealed on abdominal ultrasonography. Preoperative imaging suggested hamartoma, extramedullary hematopoiesis, or an inflammatory pseudotumor. Although metastatic splenic tumors and malignant lymphoma are atypical, they were considered in the differential diagnosis. Thus, laparoscopic splenectomy was performed. Pathological results confirmed a diagnosis of splenic xanthogranulomatosis. An increase in the postoperative triglyceride levels indicated that hyperlipidemia was the cause of xanthogranulomatosis of the spleen.ConclusionsXanthogranulomatosis should be considered in the differential diagnosis of multiple splenic mass lesions in patients with splenomegaly. Additionally, fine-needle aspiration biopsy should be considered for the preoperative diagnosis.

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Section: Case Presentationmentioning

confidence: 99%

Xanthogranulomatosis of the spleen: a case report

et al. 2018

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“…Until recently, heterozygous FH prevalence in the UK was considered to be 1 in 500 and homozygous FH 1 in 1,000,000. However, recent Northern European population studies suggest that prevalence of heterozygous FH is likely to be 1 in 200 to 270 and homozygous FH 1 in 640,000 [7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis, management and prognosis of familial hypercholesterolaemia in a UK tertiary cardiac centre

Barbir

Breen

Neves

et al. 2019

Clinical Lipidology and Metabolic Disorders

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Objective: To describe demographic characteristics, current local clinical management and outcomes for patients with familial hypercholesterolaemia (FH) managed at the Royal Brompton and Harefield NHS Foundation Trust (RBHT), a specialist UK tertiary cardiac centre. Research design and methods: A local service evaluation of patients with FH was conducted by RBHT. Patients were identified from local FH databases and medical records based on pre-defined eligibility criteria. Descriptive statistics were performed. Main outcome measures: Proportion of patients with cardiovascular (CV) events during the period of follow-up; per cent change in low-density lipoprotein cholesterol (LDL-C) between highest untreated and most recent measurement; description of patient characteristics and treatment pathways. Results: The final evaluation sample included 306 patients whose first contact with the RBHT FH service was between November 1991 and February 2015. Patients were followed up until 2016 (median 4.4 years, range 1.2-24.9). Forty-three per cent (131/306) of patients had genetically confirmed FH and 56% (172/306) did not but meet a modified Simon Broome criteria. One fifth (20%, 60/306) had at least one CV event prior to their first contact with the service, mainly angioplasty (15%, 45/306) and MI (10%, 32/306). Thirty-five patients (11%) had CV events during the period of follow-up, occurring at a mean of 5.2 years after first contact. Of 269 "current" patients (i.e. patients with at least one contact with the service in the previous 3 years) 90% (241/ 269) were prescribed statins, with adverse events experienced by 30% (73/241). Eleven patients received lipoprotein apheresis. Only 34% (49/143) of patients had a reduction of ≥50% between the highest untreated and most recent LDL-C measurement. Conclusions: Results highlight the challenges of diagnosing and management of this high risk patient group whilst reducing CV events. Future work should focus on characterisation of patient subgroups and optimising treatment with novel therapeutic agents.

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“…1 Familial hypercholesterolaemia (FH) is a hereditary autosomal dominant disorder with impaired function of LDL-C receptors, resulting in insufficient cellular binding and clearance of plasma LDL-C, and a lifelong elevated LDL-C levels. 2 If left untreated, patients with FH have a 13-fold higher risk for coronary artery disease, and if treated with standard lipid-lowering medications (i.e. statins, ezetimibe) then a 10-fold higher risk.…”

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confidence: 99%