GAUCHER'S DISEASE, LSD, FH Flashcards
It is the buildup fatty substances particularly in the spleen and liver and this buildup may cause organs to enlarge.
GAUCHER’S DISEASE
Non neuronopathic Gaucher disease = ______
_____________________________________= Type 2
Chronic neuronopathic Gaucher disease = _____
Type 1
Acute neuronopathic Gaucher disease
Type 3
What are the S&S of Gaucher’s disease?
- Abdominal complaints
- Skeletal abnormalities
- Blood disorders
- Neurological symptoms
What are the treatment for Gaucher’s disease?
- Enzyme replacement therapy (ERT)
- Substrate reduction therapy (SRT)
Which among the types of Gaucher’s disease is treatable?
Type 1
What specific ancestry is at higher risk of developing Gaucher’s disease?
Ashkenazi
What is the primary cause of Gaucher disease?
GENETIC MUTATION
Which ethnic group is at a higher risk of developing Gaucher disease?
EASTERN AND CENTRAL EUROPEAN JEWISH
Which type of Gaucher disease is typically fatal in infancy?
TYPE 2
Which organ enlargement is commonly associated with Gaucher disease?
SPLEEN/LIVER
What treatment options are available for Gaucher disease type 1?
ENZYME REPLACEMENT THERAPY (ERT)
This is a disease that has more than 70 rare diseases
Lysosomal Storage Disease
People with these disorders are missing important enzymes. Without those enzymes, the lysosome isn’t able to break down these substances
Lysosomal Storage Disease
It is caused by mutations in genes that
encode lysosomal enzymes or proteins involved in lysosomal function
LSD
Mutations in the following:
lsd GM1-gangliosidosis
GLB1 gene
Mutations in the following:
mucopolysaccharidoses
HGSNAT, HYAL1, IDS, IDUA, NAGLU
What are the signs and symptoms of LSD?
- Enlarged organs
- Neurological symptoms
- Cardiovascular symptoms
- Skeletal abnormalities
- Respiratory complications
What are the treatment for LSD?
- Enzyme replacement therapy (ERT)
- substrate reduction therapy (SRT)
- chaperone therapy
- gene therapy
- symptomatic management
How many degrative enzymes do lysosomes contains?
50
How many lysosomes are there per mammalian cell?
50 - 1000 lysosomes
What is the first LSD to be describes?
Gaucher disease in 1882
What is the LSD to be describe after Gaucher disease in 1882?
Fabry disease in 1898
Give a symptom of lysosomal storage diseases?
HEPATOMEGALY / ENLARGED ORGAN
Lysosomal storage diseases are primarily caused by?
GENETIC MUTATIONS
What is a function of lysosomes in the cell?
- BREAK DOWN EXCESS OR WORN-OUT CELL PARTS
- WASTE DISPOSAL
- DESTROY INVADING VIRUSES OR BACTERIA
- HELP INITIATE CELL DEATH
- RECYCLE CELLULAR DEBRIS
What disease is associated with a mutation in the GLB1 Gene?
LSD GM1-GANGLIOSIDOSIS
This diagnostic test for LSD can assess enzyme activity level
BLOOD TEST
associated with defects in receptor proteins
FAMILIAL HYPERCHOLESTERLEMIA
stands as a prime example of the intersection between genetics and cardiovascular health
FAMILIAL HYPERCHOLESTERLEMIA
What characterized Familial Hypercholesterolemia?
Elevated levels of LDL
What causes the Familial Hypercholesterolemia?
Mutation sin the LDLR gene
What are the signs and symptoms of Hypercholesterolemia?
- Chest pain (angina)
- Cramping
- Sudden stroke-like symptom
- Drooping on one side of the face
- Weakness
- Loss of balance
What is the preferred diagnosis for Familial Hypercholesterolemia?
Genetic testing
What is the other option to check for LDL cholesterol levels?
Blood work
It is a diagnosis in the FH that is described as fatty skin deposits over parts of the hands, elbows, knees, ankles, and around the cornea of the eye.
Xanthomas
It is a cholesterol deposits in the eyelids.
Xanthelasmas
What are the medications for FH?
- Statins
- Aspirin
- Other cholesterol-lowering medications
It is a material that is used by bees to build their hives and contains a touch of cholesterol?
Beeswax
TRUE OR FALSE:
Astronomers have detected the presence of cholesterol molecules in space
TRUE
What specie has a very high levels of cholesterol in their liver, which helps regulate their buoyancy?
Sharks
What cholesterol level is considered as Hypercholesterolemia?
> 200 mg/dL
give me one example of good cholesterol
HDL
Give one (1) specific treatment for FH
Lifestyle changes:
* Heart-healthy diet
* Regular exercise
* Weight management
- Medications:
* Statins
* Aspirin
* Other cholesterol-lowering medications
- Regular monitoring:
* Blood test
- Genetic counseling:
* Genetic testing and counseling
- Advanced therapies:
* LDL apheresis
* Gene therapy
Give me one potential complication associated with elevated levels of LDL (low-density lipoprotein) in the bloodstream.
SEVERE CARDIOVASCULAR COMPLICATIONS
HEART ATTACKS AND STROKES
ATHEROSCLEROSIS
CORONARY ARTERY DISEASE
MYOCARDIAL INFARCTION
ISCHEMIC STROKE
