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Multiple large xanthomas: A case report.

Chen Zhao1, Mingxiang Kong2, Li Cao1

  • 1Department of Orthopedics and Joint Surgery, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang 310014, P.R. China.

Oncology Letters
|January 20, 2017
PubMed
Summary
This summary is machine-generated.

This case report details a rare instance of homozygous familial hypercholesterolemia (HoFH) presenting with extensive, large xanthomas. Understanding these clinical characteristics is crucial for managing this severe genetic lipid disorder.

Keywords:
familial hypercholesterolemiaxanthomas

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Cardiology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol.
  • Homozygous familial hypercholesterolemia (HoFH) is a rare and severe form of FH, often leading to early cardiovascular disease.
  • Xanthomas are cholesterol deposits that can manifest in various tissues in patients with severe hyperlipidemia.

Purpose of the Study:

  • To report a rare case of HoFH with multiple, large, and widely distributed xanthomas.
  • To discuss the clinical presentation and histological findings of these xanthomas.
  • To enhance the understanding of the relationship between HoFH and xanthoma development.

Main Methods:

  • Case presentation of a 23-year-old male with diagnosed HoFH.
  • Surgical excision of large xanthomas from elbows and buttocks.
  • Histological analysis of surgical specimens to confirm diagnosis.

Main Results:

  • The patient exhibited multiple large xanthomas across various body sites.
  • Histological examination confirmed HoFH as the underlying diagnosis.
  • Elevated low-density lipoprotein cholesterol levels were noted.

Conclusions:

  • HoFH can present with extensive and large xanthomas, highlighting the severity of lipid deposition.
  • Early recognition and management of HoFH are critical to prevent complications.
  • This case underscores the importance of understanding xanthoma manifestations in genetic lipid disorders.