High Yield Diseases IMO Flashcards
What is Fabry disease a deficiency of and what accumulates?
Deficiency of alpha galactosidase A and a accumulation of Globotriaosylceramide
What are the symptoms of fabry disease?
Angiokeratomas: reddish blue capillary lesions
Peripheral neuroapthy
Glomerulopathy
What is the deficiency and accumulation that occurs in Tay Sachs disease?
Beta hexosaminidase A is def
GM2- ganglioside accumulates
What are the symptoms of Tay Sachs disease
Macular cherry red spot
Progressive neurodegeneration
What is the deficiency and accumulation that occurs in Gaucher disease?
Beta glucocerebrosidase is def
Glucocerebroside accumulates
What are the symptoms of Gaucher disease?
Hepatosplenomegaly
Pancytopenia
bone pain and osteopenia
Wrinkled tissue paper cytoplasm
What is the deficiency and accumulation of niemann Pick disease?
Sphingomyelinase def
Sphingomyelin builds up
What are the symptoms of Niemann Pick disease?
Cherry red spot
Progressive neurodegeneration
hepatosplenomegaly
What is the deficiency and accumulation in Krabbe disease?
Galactocerebrosidase def
Galactocerebroside and psychosine accumulation
What are the symptoms of Krabbe disease?
Progressive neurodegeneration
Peripheral neuropathy
Optic atrophy and blindness
What is the deficiency and Accumulation of metachromatic leukodystrophy?
Arylsulfatase A deficiency
Cerebroside sulfate accumulation
What are the symptoms of metachromatic leukodystrophy?
Progressive neurodegeneration
Peripheral neuropathy
What are the possible antibodies that can occur in patients with Graves disease?
TSH (thyrotropin) receptor antibody
Thyroid peroxidase antibody
What are the antibodies that are present in Hashimoto disease?
Thyroid peroxidase antibody
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?
X linked agammaglobulinemia
BTK mutation
What are the changes that are seen in the heart 0-4 hours after an MI?
No visible change
What are the changes that are seen in the heart 4-12 hours after an MI?
Wavy fibers with narrow elongated myocytes
What are the changes that are seen in the heart 12-24 hours after an MI?
Myocyte hypereosinophilia with pyknotic nuclei
What are the changes that are seen in the heart 1-3 days after an MI?
Coagulation necrosis
Prominent neutrophilic infiltrate
What are the changes that are seen in the heart 3-7 days after an MI?
Disintegration of dead neutrophils and myofibers
Macrophage infiltration at border areas
What are the changes that are seen in the heart 7-10 days after an MI?
Robust phagocytosis of dead cells by macrophages
Beginning formation of granulation tissue at margins
What are the changes that are seen in the heart 10-14 days after an MI?
Well developed granulation tissue with neovascularization
What are the Igs that are associated with Graves disease?
igG
What is the enzyme that is deficient in Von Gierke disease?
Glucose-6-phosphatase
What are the symptoms of Von-Gierke disease
Glucose 6 phosphatase deficiency: enlarged kidney and liver, slow growth, very low blood sugar, high levels of acids, fats, and uric acid
What is the enzyme deficient in Pompe disease?
alpha 1-4 glucosidase
Symptoms: hypotnia and cardiomyopathy
What is the Ig that is associated with warm agglutinin disease?
IgG
What is the Ig that is associated with cold agglutinin disease?
IgM
anti-C3
What are the diseases that are associated with warm agglutinin disease?
Lupus
CLL
What are the disease that are associated with cold agglutinin disease?
mono
Mycoplasma pnemoniae
What is another phrase for trochanteric bursitis?
Greater trochanteric pain syndrome
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?
Primary hyperaldosteronism
Give spironolactone (can cause menstrual issues)
What are the common symptoms of a patient that is experiencing malignant hyperthermia?
In the setting of general anesthesia, increased end tidal CO2 and tachycardia
***give dantrolene
What is the pathophysiology and symptoms of mantle cell lymphoma?
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
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?
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
Patients with sarcoidosis will commonly have increased levels of _____
ACE
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
Churg Strauss
