HYPERLIPOPROTEINEMIA
Group 4 members:
Goyena, Junette
Lacap, Kate
Lucas, Jenahmae
Luna, Shaina
Lutero, Camille
Ortiz, Hari
Pano, Jilliane
What is Achondroplasia?
• It is a genetic disorder in which the
cartilage fails to develop into bone
during early stages of development which
leads to dwarfism that causes
disproportionate dwarfism.
• Cause of disease: the reduced or absent activity of the enzyme LIPOPROTEIN LIPASE or
• Pattern of inheritance:
• Incidence:
Etiology
An ineffective breakdown of chylomicrons
The most important enzyme for this process is LPL, and it is encoded by a gene located on the short
arm of chromosome 8.
Mutations of this gene may alter the enzyme's functionality, resulting in severely reduced or absent
LPL activity. LPL mutations are the most common cause of HLP1.
LPL depends on Apo C-II as a cofactor. Thus, mutations of the gene encoding for ApoC-II similarly
Definition:
Type II Hyperlipoproteinemia is a condition characterized by high levels of
beta-lipoproteins in the blood. The high cholesterol results from abnormally
high levels of low density lipoproteins in the blood due to a deficiency of
LDL receptors. There are two subtypes of this condition: type IIa and type
IIb.
Lipoproteins are responsible for transporting cholesterol in the
bloodstream and high levels of them in the bloodstream means that there
are high levels of cholesterol in the bloodstream
Pattern of inheritance: Autosomal recessive
Cause of the disease:
Secondary hyperlipoproteinemia is the result of other health conditions that lead to high levels of lipids in
your body. These include:
Diabtes
hypothyroidism
pancreatitis
use of certain drugs, such as contraceptives and steroids
certain lifestyle choices
Other diagnostic tests might measure thyroid function, glucose, protein in the
urine, liver function, and uric acid.
Supportive treatment:
Treatment for hyperlipoproteinemia will depend on which type you have. When the condition
is the result of hypothyroidism, diabetes, or pancreatitis, treatment will take the underlying
disorder into account.
Your doctor may prescribe medications like the following to help lower lipid levels:
atorvastatin(Lipitor)
fluvastatin (Lescol XL)
pravastatin (Pravachol)
ezetimibe (Zetia)
Certain lifestyle changes can also help with hyperlipoproteinemia. These include:
a low-fat diet
increased exercise
weight loss
stress relief
a decrease in alcohol consumption
• Also known as Dysbetalipoproteinemia
• It is a hereditary disorder characterized by high amounts of lipids (fat) in the body and blood.
• Incidence: Hyperlipoproteinemia type III affects males more often than females, and the
• Affected individuals may develop multiple yellowish, lipid-filled bumps (papules) or plaques on
the skin (xanthomas), and buildup of fatty materials in the blood vessels (artherosclerosis)
Pathophysiology
May develop thickening and blockage of various blood vessels (atherosclerosis) due to the
buildup of fatty material.
Coronary heart disease results from blockage or interruption of the blood supply to the heart
potentially resulting in chest pain (angina) and heart attack.
Xanthomas
Dietary therapy
Arcus lidus corneae
Medication
Angina (combination of
Hepatosplenomega
ly
References
https://rarediseases.info.nih.gov/diseases/8173/achondroplasia#diseaseStatisti
csSection
https://prezi.com/_act9hxzvsnf/achondroplasiadwarfism/
https://ghr.nlm.nih.gov/condition/achondroplasia#resources