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Progress on familial hypercholesterolemia.

Wan-Zi Jiang1, Li-Wen Zhang2, Cai-Hong He2,3

  • 1Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.

Yi Chuan = Hereditas
|November 24, 2021
PubMed
Summary
This summary is machine-generated.

Familial hypercholesterolemia (FH) is an inherited condition causing high LDL cholesterol. Research shows increasing scientific output on FH pathogenesis, treatment, and juvenile cases, with new drugs offering hope.

Keywords:
familial hypercholesterolemiagene locirare diseaseresearch status

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Area of Science:

  • Genetics and Cardiovascular Medicine

Background:

  • Familial hypercholesterolemia (FH) is an autosomal inherited disorder.
  • It is characterized by elevated low-density lipoprotein cholesterol (LDL-C), tendon xanthomas, and premature coronary artery disease (PCAD).

Purpose of the Study:

  • To analyze the current research status of FH.
  • To summarize reported mutation gene loci and treatments in Chinese FH patients.
  • To elaborate on the current status of patents and drug research for FH.

Main Methods:

  • Literature review and analysis of scientific publications.
  • Examination of patent filings related to FH detection, diagnosis, and treatment.
  • Survey of launched pharmaceutical treatments for FH.

Main Results:

  • Scientific research on FH is increasing, with a positive developmental trend.
  • Popular research areas include FH pathogenesis, treatment strategies, and juvenile FH.
  • Major pharmaceutical companies are actively involved in FH research and development.
  • Twelve FH drugs are available in key global markets.

Conclusions:

  • There is a growing body of research and development in Familial Hypercholesterolemia.
  • Advancements in detection, diagnosis, and treatment, including new drugs, offer improved outcomes for patients.