ACHONDROPLASIA, TYPE I, II, III

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.

• It is the most common type of

disproportionate dwarfism
 What causes achondroplasia?
• Dr. John Wasmuth stated that
Achondroplasia is caused by the
fibroblast growth factor receptor-3
gene which is a part of Chromosome 4

• The FGFR3 gene instructs your body to

make a protein necessary for bone
growth and maintenance.

• Mutations in the FGFR3 gene cause the

protein to be overactive.
 Pattern of Inheritance
 Achondroplasia is inherited in an autosomal
dominant pattern, which means one copy of
the altered gene in each cell is sufficient
to cause the disorder.
 If one parent has the condition, the child
has a 50 percent chance of getting it.

 Individuals who inherit two altered copies of

this gene typically have a severe form
of achondroplasia that causes extreme
shortening of the bones and an underdeveloped
rib cage.

 Infants born with homozygous achondroplasia

are usually stillborn or die within a few
months of being born.
What are the symptoms of Achondroplasia?
 At birth:  Children and adults:
• a short stature that’s significantly • have difficulty bending their
below average for age and sex
elbows
• short arms and legs, especially the
• be obese
upper arms and thighs, in comparison
to body height • experience recurrent ear
• short fingers in which the ring and infections due to narrow passages
middle fingers may also point away in the ears
from each other • develop bowed legs
• a disproportionately large head • develop an abnormal curvature of
compared to the body the spine called kyphosis or
• an abnormally large, prominent lordosis
forehead • develop new or more severe spinal
• an underdeveloped area of the face stenosis
between the forehead and upper jaw
 Incidence
• The condition occurs in 1 in 15,000
to 40,000 newborns worldwide

• Estimated to occur in about 1 case

in 6400 births in Denmark and about
1 case in 10,000 births in Latin
America. No particular race has been
documented to be more commonly
affected.
How is achondroplasia treated?
• Tracheostomy
• Insertion of shunt to drain excessive fluid
• Corrective surgeries for deformities
• Physical therapy to strengthen muscles
• Back braces
• Orthodontic treatment
• Nutritional guidance and exercise
• Some doctors use growth hormones to increase the growth rate of
a child’s bones. However, their long-term effects on height
haven’t been determined and are thought to be modest at best.
• a genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride

lipids) breakdown which results in its accumulation in the blood

• Cause of disease: the reduced or absent activity of the enzyme LIPOPROTEIN LIPASE or

APOLIPOPROTEIN C-II (a lipase-activating protein)

• 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

interfere with lipid metabolism and lead to hypertriglyceridemia.

Pathophysiology
After digestion of dietary fat, fatty acids, monoglycerides, and diglycerides are absorbed by the mucous membrane
of the small intestine. Here, they serve as substrates for triglyceride biosynthesis, and these lipids are eventually
combined with cholesterol and apolipoproteins B-48, A-I, A-II and A-IV to form chylomicrons. Chylomicrons are then
released into lymphatic vessels, are transported within those vessels up to the thoracic duct and finally reach the
cardiovascular system. In a maturation process, the composition of chylomicrons changes. They release determined
apolipoproteins and bind others. ApoC-II is among those new constituents of chylomicrons, and it is required for
triglyceride breakdown upon delivery of lipids to end organs like the heart, muscles and adipose tissue. Endothelial cells
lining the capillaries of those organs express LPL and are thus able to digest the arriving nutrients and to use them for
energy supply.
In HLP1 patients, the previously mentioned chain of events is interrupted at the point of delivery to end organs.
Due to functional deficits in ApoC-II or LPL, chylomicrons cannot be metabolized. On the one hand, this condition
causes an abnormal accumulation of chylomicron constituents in the patient's circulation; on the other hand, cardiac,
muscular and adipose tissues are deprived of their main energy supply. In the long term, the former poses a much higher
risk since it predisposes for life-threatening cardiovascular disease.
Signs and Symptoms Complications Treatment

 Increased blood  Acute Pancreatitis  a low-fat diet

chylomicron level  Chylomicronemia  increased exercise

 Abdominal pain Syndrome  weight loss

 Enlarged liver  Dementia  stress relief

 Enlarged spleen  Hyperlipidemia  a decrease in alcohol

 Yellow skin lumps  Hypertriglyceridemia consumption



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

Signs and symptoms:

The list of signs and symptoms for Type II Hyperlipoproteinemia includes the 8 symptoms listed below:

1. Asymptomatic in early stages

2. Xanthoma
3. High cholesterol level
4. High beta-lipoprotein level
5.Yellowish patches around eyelids
6. Whitish edges of cornea
7. Lumps on tendons - mainly hands, feet and Achilles tendon
8. Bumps under skin
Diagnosis:
A doctor can diagnose hyperlipoproteinemia with a blood test. Sometimes, family
history is useful. If you have lipid deposits on your body, your doctor will also
examine those.

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.

In this disorder, there is defective breakdown or metabolism of lipids

• Cause of the Disease: alterations in the APOE gene

• Pattern of inheritance: Autosomal Recessive

• Incidence: Hyperlipoproteinemia type III affects males more often than females, and the

majority of cases occur during early adulthood

Etiology
• Rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty
materials known as lipids, specifically cholesterol and triglycerides

• 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.

 Some individuals may have an abnormally enlarged liver or spleen (hepatosplenomegaly)

Signs and Symptoms Treatment

 Xanthomas
 Dietary therapy
 Arcus lidus corneae
 Medication

 Angina (combination of

 Pancreatitis statins and fibrates

 Claudication  Regular exercise

 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