Introduction of familial hypercholesterolemia

Question:

Introduction:

Introduction of familial hypercholesterolemia (FH)-Origin and history of FH (first cases etc.)
Discuss the epidemiology of FH in Australia and Worldwide
-Why and how do people get FH?
-Explain what high amount of low-density lipoprotein (LDL) levels and how it’s “bad”
-Introduce different types of FH
Health impacts and experiences of FH for an individual and their families
-E.g., premature health conditions and diseases, death
-Why FH is a public health concern and its importance

Genetic Background, Principles And Process

Explain how and why genes and mutations can occur in an individual
-Define terminology on biology (genes, mutations, chromosomes) in simple terms
-Explain why inborn errors occur and what role enzymes have in the human body
-Explain difference between autosomal dominance and recessive genes and why FH is autosomal dominant
-Explain difference between heterozygous and homozygous FH (terminology)
Discuss further on why familial hypercholesterolemia occurs
-What causes a person to be affected? Family background/pedigree? Talk about alleles and discuss how inherited genes from parents work in relation to heterozygous and homozygous FH
-Elaborate on LDL and HDL (“bad” and “good” cholesterol) further and how cholesterol is transported via blood, importance of LDL receptors and what happens if a receptor is mutated or loses its function (explain enzyme-substrate complex)
-Further explain the LDL receptor gene (located on chromosome 19)
-Relate this back to how chronic heart conditions and diseases (CVD, strokes, atherosclerosis, coronary artery disease etc.) occur because of the mutated receptor

Clinical Symptoms And Prognosis

How is familial hypercholesterolemia diagnosed?
What are the symptoms and experiences of suffers from FH
-Yellowness in skin (e.g., eyelids and palms of hands)
-Skin legions
-Different symptoms for birth, infancy, child, adolescence and adulthood
Diseases that can lead to diagnosis of FH

Treatment And Dietary Management

Discuss treatment used for heterozygousFH
-Lifestyle factors (weight loss, healthy diet), environmental factors, pharmacological treatment to lower LDL levels (drug therapy and medications e.g., “statins”)
Discuss treatment for homozygous FH
-Explain why homozygous FH is harder to treat
-Describe LDL apheresis and surgical treatments
-Discuss medical complications with treatment
Dietary requirements at birth, infancy, childhood, adolescence and adulthood
Comparison of treatment methods for FH in Australia vs. other countries
Existing research vs. new research
Changes in knowledge about FH and treatment methods?
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