ALLMedicine™ Xanthomas Center

May 13th, 2022 - The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are carried in the aqueous environment of the blood. The lipoprotein particles that comprise this system are polydisperse and contain triglycerides, free and es...

Apr 26th, 2022 - Familial hypercholesterolemia (FH) is an inherited metabolic defect leading to increased total cholesterol and low-density cholesterol (LDL) from birth onwards. Homozygous FH, presenting with clear clinical features, has a prevalence of ~ 1 per mi...

Mar 17th, 2022 - Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, p...

Feb 3rd, 2022 - A 33-year-old woman presented to the Emergency Department at 3 months postpartum with a 2-day history of a partial left sixth cranial nerve palsy, and several weeks' history of bilateral blurred vision and papular skin lesions. Brain imaging and u...

Jan 12th, 2022 - Achilles tendon (AT) xanthomas are a specific physical finding of familial hypercholesterolemia (FH) and AT thickness has been used for its diagnosis and evaluation of its severity. Recently, we reported that the AT of FH patients was softer than ...

May 13th, 2022 - The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are carried in the aqueous environment of the blood. The lipoprotein particles that comprise this system are polydisperse and contain triglycerides, free and es...

Oct 12th, 2021 - Familial hypercholesterolemia (FH) is a genetic lipoprotein disorder characterized by elevations in low-density lipoprotein cholesterol (LDL-C) >95th percentile for age and gender. Affected individuals may show clinical manifestations (xanthomas, ...

May 15th, 2017 - Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated levels of total cholesterol (TC) and low-density lipoprotein (LDL) choleste...

Jun 10th, 2014 - Familial hypercholesterolemia (FH) is the most common autosomal dominant disease in most countries, including Spain. Its prevalence is estimated at one in every 350-500 people being higher in certain areas with certain genetic isolation as French ...

Oct 14th, 2013 - Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from xanthomas located in the brain and tendon, accelerated atheroscle...

Jun 3rd, 2020 - Most patients (60%) with untreated heterozygous FH develop tendon xanthomas by the third decade of life. However, tendon xanthomas are not pathognomonic for heterozygous FH, and careful differential diagnosis is required. Tendon xanthomas in patie...

Jun 3rd, 2020 - Figure 2. Xanthelasmata around the eyelids. Biopsy of cutaneous lesions, such as xanthomas and xanthelasmas, can be helpful in cases in which the diagnosis of FH is unclear. Xanthelasmas and xanthomas of FH will contain accumulated cholesterol, wh...

Jun 3rd, 2020 - Physical examination findings of individuals with heterozygous FH may include corneal arcus in individuals younger than 45 years; tendon xanthomas and tuberous xanthomas or xanthelasma that present at an early age should also trigger suspicion for...

Mar 22nd, 2018 - Charles P. Vega, MD: A 55-year-old woman comes to see her primary care physician with a chief complaint of "What are all these bumps I see all over?" She has noted an increasing number of asymptomatic, small yellow and red papules on her buttocks ...

Mar 22nd, 2018 - Charles P. Vega, MD: A 55-year-old woman comes to see her primary care physician with a chief complaint of "What are all these bumps I see all over?" She has noted an increasing number of asymptomatic, small yellow and red papules on her buttocks ...