The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively. Tendon xanthomas also occur in two rare conditions, cerebrotendinous xanthomatosis and sitosterolemia, which are not easily confused with FH, can be easily differentiated with clinical history and biochemical tests.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860789PMC
http://dx.doi.org/10.1016/j.ihj.2013.06.012DOI Listing

Publication Analysis

Top Keywords

tendon xanthomas
12
atherosclerotic burden
8
xanthomas indicators
4
indicators atherosclerotic
4
burden coronary
4
coronary arteries
4
arteries presence
4
presence tendon
4
xanthomas indicator
4
indicator familial
4

Similar Publications

Soft tissue mass resembling myxochondroid metaplasia in Achilles tendon.

Skeletal Radiol

December 2024

Department of Radiology, University of Pittsburgh, UPMC Montefiore, 200 Lothrop Street, Pittsburgh, PA, NE 538.3, 15213, USA.

The Achilles tendon is the strongest and largest tendon in the human body, composed of the distal confluence of the gastrocnemius and soleus muscles and may also include the plantaris longus tendons. Despite its tremendous strength, it is frequently injured. Soft tissue tumors or tumor-like conditions of Achilles tendon are much less common in comparison to traumatic and infectious/inflammatory lesions.

View Article and Find Full Text PDF

Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.

Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.

View Article and Find Full Text PDF

Sleep disorders in cerebrotendinous xanthomatosis: A case series.

Sleep Med

December 2024

Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil; Centro Universitário Christus, Fortaleza, Ceara, Brazil. Dom Luís Ave., 911, Fortaleza, Ceara, 60160-230, Brazil.

Article Synopsis
  • Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder causing various neurological issues, including balance problems and sleep disturbances.
  • A recent study examined sleep patterns in four CTX patients, revealing significant issues like insomnia and excessive daytime sleepiness.
  • This study is the first to consider sleep assessments in CTX management, highlighting the need for more research on how cholestanol deposits may affect sleep-related brain functions.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!