GAUCHER'S DISEASE, LSD, FH

Question 1

It is the buildup fatty substances particularly in the spleen and liver and this buildup may cause organs to enlarge.

Answer 1

GAUCHER’S DISEASE

Question 2

Non neuronopathic Gaucher disease = ______
_____________________________________= Type 2
Chronic neuronopathic Gaucher disease = _____

Answer 2

Type 1
Acute neuronopathic Gaucher disease
Type 3

Question 3

What are the S&S of Gaucher’s disease?

Answer 3

• Abdominal complaints
• Skeletal abnormalities
• Blood disorders
• Neurological symptoms

Question 4

What are the treatment for Gaucher’s disease?

Answer 4

• Enzyme replacement therapy (ERT)
• Substrate reduction therapy (SRT)

Question 5

Which among the types of Gaucher’s disease is treatable?

Answer 5

Type 1

Question 6

What specific ancestry is at higher risk of developing Gaucher’s disease?

Answer 6

Ashkenazi

Question 7

What is the primary cause of Gaucher disease?

Answer 7

GENETIC MUTATION

Question 8

Which ethnic group is at a higher risk of developing Gaucher disease?

Answer 8

EASTERN AND CENTRAL EUROPEAN JEWISH

Question 9

Which type of Gaucher disease is typically fatal in infancy?

Answer 9

TYPE 2

Question 10

Which organ enlargement is commonly associated with Gaucher disease?

Answer 10

SPLEEN/LIVER

Question 11

What treatment options are available for Gaucher disease type 1?

Answer 11

ENZYME REPLACEMENT THERAPY (ERT)

Question 12

This is a disease that has more than 70 rare diseases

Answer 12

Lysosomal Storage Disease

Question 13

People with these disorders are missing important enzymes. Without those enzymes, the lysosome isn’t able to break down these substances

Answer 13

Lysosomal Storage Disease

Question 14

It is caused by mutations in genes that
encode lysosomal enzymes or proteins involved in lysosomal function

Answer 14

LSD

Question 15

Mutations in the following:
lsd GM1-gangliosidosis

Answer 15

GLB1 gene

Question 16

Mutations in the following:
mucopolysaccharidoses

Answer 16

HGSNAT, HYAL1, IDS, IDUA, NAGLU

Question 17

What are the signs and symptoms of LSD?

Answer 17

• Enlarged organs
• Neurological symptoms
• Cardiovascular symptoms
• Skeletal abnormalities
• Respiratory complications

Question 18

What are the treatment for LSD?

Answer 18

• Enzyme replacement therapy (ERT)
• substrate reduction therapy (SRT)
• chaperone therapy
• gene therapy
• symptomatic management

Question 19

How many degrative enzymes do lysosomes contains?

Answer 19

50

Question 20

How many lysosomes are there per mammalian cell?

Answer 20

50 - 1000 lysosomes

Question 21

What is the first LSD to be describes?

Answer 21

Gaucher disease in 1882

Question 22

What is the LSD to be describe after Gaucher disease in 1882?

Answer 22

Fabry disease in 1898

Question 23

Give a symptom of lysosomal storage diseases?

Answer 23

HEPATOMEGALY / ENLARGED ORGAN

Question 24

Lysosomal storage diseases are primarily caused by?

Answer 24

GENETIC MUTATIONS

Question 25

What is a function of lysosomes in the cell?

Answer 25

- BREAK DOWN EXCESS OR WORN-OUT CELL PARTS - WASTE DISPOSAL - DESTROY INVADING VIRUSES OR BACTERIA - HELP INITIATE CELL DEATH - RECYCLE CELLULAR DEBRIS

Question 26

What disease is associated with a mutation in the GLB1 Gene?

Answer 26

LSD GM1-GANGLIOSIDOSIS

Question 27

This diagnostic test for LSD can assess enzyme activity level

Answer 27

BLOOD TEST

Question 28

associated with defects in receptor proteins

Answer 28

FAMILIAL HYPERCHOLESTERLEMIA

Question 29

stands as a prime example of the intersection between genetics and cardiovascular health

Answer 29

FAMILIAL HYPERCHOLESTERLEMIA

Question 30

What characterized Familial Hypercholesterolemia?

Answer 30

Elevated levels of LDL

Question 31

What causes the Familial Hypercholesterolemia?

Answer 31

Mutation sin the LDLR gene

Question 32

What are the signs and symptoms of Hypercholesterolemia?

Answer 32

- Chest pain (angina) - Cramping - Sudden stroke-like symptom - Drooping on one side of the face - Weakness - Loss of balance

Question 33

What is the preferred diagnosis for Familial Hypercholesterolemia?

Answer 33

Genetic testing

Question 34

What is the other option to check for LDL cholesterol levels?

Answer 34

Blood work

Question 35

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.

Answer 35

Xanthomas

Question 36

It is a cholesterol deposits in the eyelids.

Answer 36

Xanthelasmas

Question 37

What are the medications for FH?

Answer 37

* Statins * Aspirin * Other cholesterol-lowering medications

Question 38

It is a material that is used by bees to build their hives and contains a touch of cholesterol?

Answer 38

Beeswax

Question 39

TRUE OR FALSE: Astronomers have detected the presence of cholesterol molecules in space

Answer 39

TRUE

Question 40

What specie has a very high levels of cholesterol in their liver, which helps regulate their buoyancy?

Answer 40

Sharks

Question 41

What cholesterol level is considered as Hypercholesterolemia?

Answer 41

>200 mg/dL

Question 42

give me one example of good cholesterol

Answer 42

HDL

Question 43

Give one (1) specific treatment for FH

Answer 43

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

Question 44

Give me one potential complication associated with elevated levels of LDL (low-density lipoprotein) in the bloodstream.

Answer 44

SEVERE CARDIOVASCULAR COMPLICATIONS HEART ATTACKS AND STROKES ATHEROSCLEROSIS CORONARY ARTERY DISEASE MYOCARDIAL INFARCTION ISCHEMIC STROKE