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Related Experiment Videos

Beware of Cloudy Serum.

Kohn1, Jacobson

  • 1Department of Adolescent Medicine, The Royal Alexandra Hospital for Children, Westmead, Sydney, Australia.

Adolescent Medicine (Philadelphia, Pa.)
|October 1, 1996
PubMed
Summary

A young male with abdominal pain was diagnosed with type V primary hyperlipidemia, a rare genetic condition causing high cholesterol and triglycerides. Treatment with medication and diet successfully lowered his lipid levels.

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Area of Science:

  • Pediatric Gastroenterology
  • Endocrinology
  • Genetics

Background:

  • Abdominal pain in children can indicate various conditions, including surgical emergencies.
  • Hyperlipidemia, particularly rare genetic subtypes, can present with unusual symptoms.
  • Type V primary hyperlipidemia is characterized by elevated triglycerides and cholesterol.

Purpose of the Study:

  • To report a case of type V primary hyperlipidemia presenting as acute abdominal pain in a child.
  • To highlight the diagnostic challenges and successful management of this rare condition.

Main Methods:

  • Case report of an 11 1/2-year-old African-American male with acute abdominal pain.
  • Clinical evaluation including physical examination, laboratory tests (white blood cell count, lipid profile), and imaging.
  • Surgical intervention (appendectomy) and subsequent medical management with gemfibrozil and dietary modifications.

Main Results:

  • The patient presented with symptoms mimicking appendicitis, including right lower quadrant pain, anorexia, and vomiting.
  • Elevated white blood cell count and lipemic serum were noted.
  • Appendectomy revealed purulent fluid; postoperative diagnosis was type V primary hyperlipidemia with pancreatic involvement.
  • Gemfibrozil treatment and dietary changes led to significant reductions in triglyceride and cholesterol levels.

Conclusions:

  • Type V primary hyperlipidemia can present with acute abdominal symptoms, potentially mimicking surgical conditions like appendicitis.
  • Early diagnosis and appropriate management, including pharmacotherapy and lifestyle changes, are crucial for controlling lipid levels and preventing complications.
  • This case underscores the importance of considering metabolic disorders in the differential diagnosis of pediatric abdominal pain.

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