High Yield Diseases IMO

Question 1

What is Fabry disease a deficiency of and what accumulates?

Answer 1

Deficiency of alpha galactosidase A and a accumulation of Globotriaosylceramide

Question 2

What are the symptoms of fabry disease?

Answer 2

Angiokeratomas: reddish blue capillary lesions
Peripheral neuroapthy
Glomerulopathy

Question 3

What is the deficiency and accumulation that occurs in Tay Sachs disease?

Answer 3

Beta hexosaminidase A is def

GM2- ganglioside accumulates

Question 4

What are the symptoms of Tay Sachs disease

Answer 4

Macular cherry red spot

Progressive neurodegeneration

Question 5

What is the deficiency and accumulation that occurs in Gaucher disease?

Answer 5

Beta glucocerebrosidase is def

Glucocerebroside accumulates

Question 6

What are the symptoms of Gaucher disease?

Answer 6

Hepatosplenomegaly
Pancytopenia
bone pain and osteopenia

Wrinkled tissue paper cytoplasm

Question 7

What is the deficiency and accumulation of niemann Pick disease?

Answer 7

Sphingomyelinase def

Sphingomyelin builds up

Question 8

What are the symptoms of Niemann Pick disease?

Answer 8

Cherry red spot
Progressive neurodegeneration

hepatosplenomegaly

Question 9

What is the deficiency and accumulation in Krabbe disease?

Answer 9

Galactocerebrosidase def

Galactocerebroside and psychosine accumulation

Question 10

What are the symptoms of Krabbe disease?

Answer 10

Progressive neurodegeneration

Peripheral neuropathy

Optic atrophy and blindness

Question 11

What is the deficiency and Accumulation of metachromatic leukodystrophy?

Answer 11

Arylsulfatase A deficiency

Cerebroside sulfate accumulation

Question 12

What are the symptoms of metachromatic leukodystrophy?

Answer 12

Progressive neurodegeneration

Peripheral neuropathy

Question 13

What are the possible antibodies that can occur in patients with Graves disease?

Answer 13

TSH (thyrotropin) receptor antibody

Thyroid peroxidase antibody

Question 14

What are the antibodies that are present in Hashimoto disease?

Answer 14

Thyroid peroxidase antibody

Question 15

A 4 month old patient is brought in with recurrent sinopulmonary infections and chronic GI issues.

On examination the patient has small tonsils noted

Labs show decreased Ig’s and decreased CD19

What is the disease?

Answer 15

X linked agammaglobulinemia

BTK mutation

Question 16

What are the changes that are seen in the heart 0-4 hours after an MI?

Answer 16

No visible change

Question 17

What are the changes that are seen in the heart 4-12 hours after an MI?

Answer 17

Wavy fibers with narrow elongated myocytes

Question 18

What are the changes that are seen in the heart 12-24 hours after an MI?

Answer 18

Myocyte hypereosinophilia with pyknotic nuclei

Question 19

What are the changes that are seen in the heart 1-3 days after an MI?

Answer 19

Coagulation necrosis

Prominent neutrophilic infiltrate

Question 20

What are the changes that are seen in the heart 3-7 days after an MI?

Answer 20

Disintegration of dead neutrophils and myofibers

Macrophage infiltration at border areas

Question 21

What are the changes that are seen in the heart 7-10 days after an MI?

Answer 21

Robust phagocytosis of dead cells by macrophages

Beginning formation of granulation tissue at margins

Question 22

What are the changes that are seen in the heart 10-14 days after an MI?

Answer 22

Well developed granulation tissue with neovascularization

Question 23

What are the Igs that are associated with Graves disease?

Answer 23

igG

Question 24

What is the enzyme that is deficient in Von Gierke disease?

Answer 24

Glucose-6-phosphatase

Question 25

What are the symptoms of Von-Gierke disease

Answer 25

Glucose 6 phosphatase deficiency: enlarged kidney and liver, slow growth, very low blood sugar, high levels of acids, fats, and uric acid

Question 26

What is the enzyme deficient in Pompe disease?

Answer 26

alpha 1-4 glucosidase Symptoms: hypotnia and cardiomyopathy

Question 27

What is the Ig that is associated with warm agglutinin disease?

Answer 27

IgG

Question 28

What is the Ig that is associated with cold agglutinin disease?

Answer 28

IgM anti-C3

Question 29

What are the diseases that are associated with warm agglutinin disease?

Answer 29

Lupus | CLL

Question 30

What are the disease that are associated with cold agglutinin disease?

Answer 30

mono | Mycoplasma pnemoniae

Question 31

What is another phrase for trochanteric bursitis?

Answer 31

Greater trochanteric pain syndrome

Question 32

A patient comes in with fatigue, decreased muscle strength, increased thirst, and increased urination. Labs show evidence of hypertension, hypokalemia, hypernatremia, and metabolic alkalosis. What is the diagnosis?

Answer 32

Primary hyperaldosteronism Give spironolactone (can cause menstrual issues)

Question 33

What are the common symptoms of a patient that is experiencing malignant hyperthermia?

Answer 33

In the setting of general anesthesia, increased end tidal CO2 and tachycardia ***give dantrolene

Question 34

What is the pathophysiology and symptoms of mantle cell lymphoma?

Answer 34

There is a reciprocal translocation between chromosomes 11 and 14 with a cyclin D1 overexpression from chromosome 11 Extranodal involvement: splenomegaly nontender lymphadenopathy Systemic B sx: fever, night sweats, weight loss Widespread at dx

Question 35

A patient comes in c/o increased headaches, tinnitus and overall bone pain for the past year. You do labs and find that the patient has normal PTH, calcium, and phosphate levels. There is an increase in alkaline phosphattase. What diagnosis are you suspicious of?

Answer 35

Osteitis deformans Paget disease of the bone Patients can also c/o increased hat size; frontal bones or any bones in the skull can increase in size

Question 36

Patients with sarcoidosis will commonly have increased levels of _____

Answer 36

ACE

Question 37

This disease is also known as allergic angiitis. It occurs in patients with a history of asthma. It is a small vessel vasculitis with a positive p-ANCA and has an immune destruction of vessel walls. Increased eosinophils invasion

Answer 37

Churg Strauss