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The Skinny on Fat

This presentation details the case of an 18-year-old Iraqi female with a history of severe hyperlipidemia, characterized by eruptive cutaneous xanthomas and significantly elevated cholesterol levels. Initial treatments included statins and niacin, but lipid levels remained critically high. The presentation outlines the genetic factors contributing to her condition, including mutations in LDL-related genes and Apolipoprotein E typing. We discuss treatment options, including lipid pheresis, which has shown promise in reducing lipid levels.

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The Skinny on Fat

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Presentation Transcript

  1. The Skinny on Fat CP case conference February 2012

  2. Patient presentation • 18 y/o Iraqi female • 1 prior episode of chest pain • No angina or dyspnea on exertion • Eruptive cutaneous xanthomas on: • Elbows and olecranon processes • Knees • Achilles tendons • Hand MCP joints

  3. Patient presentation • In Syria: • Total cholesterol: 630 • Triglycerides: 120 • Started on Simvastatin and niacin • Total cholesterol: 603 • HDL: 33, TRIG: 74, LDL: 555 • Here, lipid panel showed: • Total cholesterol:713 • HDL: 40, TRIG: 80, LDL: 657

  4. Causes of hyperlipidemia • Clinical classification based on lipid levels and physical findings • Prevalence of 1/500 (!!)

  5. Causes of hyperlipidemia • Defect may be in each component: • LDL receptor – prevents docking of LDL droplet • LDLRAP1 – prevents binding of LDLR • Clathrin – prevents invagination • Apolipoprotein – prevents interaction with LDLR Apolipoproteins around lipids droplets

  6. Causes of hyperlipidemia • ~1000 known mutations • Autosomal inheritance pattern • Dose-dependent impact on lipid levels • Variable effect by various mutations (not entirely predicted by type of mutation)

  7. Causes of hyperlipidemia • Multiple mutations in LDLRAP1

  8. Apolipoprotein E typing • Apolipoprotein E – component of LDL recognized by the LDLR for uptake in the liver • 3 isotypes – 2, 3, and 4 • 3.7kb gene located on chromosome 19 • E2/E2 is associated with hyperlipidemia • E4 isoform is associated with Alzheimer dx

  9. Apolipoprotein E typing • PCR amplification of the ApoE gene • Restriction digest with endonuclease CfoI • Differential restriction band pattern due to changes in recognition sequence • Pt is E3/E3

  10. Treatment Options • Medications: • Statins • Cholesterol binding resins • Surgery: • Ileal bypass surgery • Portocaval anastomosis • Liver transplantation • LDL pheresis

  11. Lipid pheresis

  12. Lipid pheresis video

  13. Lipid pheresis

  14. Effect on our patient • Lipid levels since initiating pheresis

  15. Effect on our patient

  16. Questions?

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