Lysosomal Storage Diseases

[IMGUSMLEStep1]

These are a nightmare to me. I don't have a problem memorizing the deficient enzyme and accumulated substrate for each, it's the signs and symptoms that I just can't get. Does anyone have a good way of learning these?
Would greatly appreciate the help guys.

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[kryptik]

i hate these too, this is what has been helping me

angiokeratoma - fabrys
bone issues - gauchers
hepatosplenomegaly - niemann pick
cornea issues - hurler

i know its not complete but its been helping me so far

 

[njmedstudent87]

yep kryptik is on point

nieman- cherry red + hepatosplenomegaly

taysachs- cherry red + no hepatosplenomegaly

Gaucher- bone necrosis

metachromatic LD- ataxia

fabry's- renal dz, x linked

hurler- corneal clouding

hunter- no corneal clouding

 

[IM Substance P]

yep kryptik is on point

nieman- cherry red + hepatosplenomegaly

taysachs- cherry red + no hepatosplenomegaly

Gaucher- bone necrosis

metachromatic LD- ataxia

fabry's- renal dz, x linked

hurler- corneal clouding

hunter- no corneal clouding

Are these actually all lysosomal storage diseases? I think not.

I say to memorize (1.) the age at which they present, (2.) the organs involved, and (3.) the unique features.

Tay Sachs - First year of life, primarily brain and eyes, cherry red spot and very early death with regression in development, deafness + blindness + regression + Jewish background

Gaucher - First decade of life, primarily liver, spleen, and bone (organs with macrophages), mostly normal lifespan, wrinkly macrophages, organomegaly + fractures

Niemann Pick - Depends, some effects on marrow and some possible effects on CNS, foamy macrophages

Metachromatic leukodystrophy - First few years, all CNS, demyelinating disease with regression, Step 1 would probably give you description of brain at autopsy in question stem

Fabry's - Variable age, kidney, skin, and peripheral nerves, burning peripheral neuropathy and angiokeratomas, almost certainly will have neuropathy as part of Step 1 question stem

Hurler - First decade of life, marrow, CNS, and cornea, marrow expansion with "gargoyle"-like face

Hunter - Variable, less severe than Hurler, almost certainly not going to be test on Step 1 as it is VERY VERY VERY uncommon

Etc...

 

[metalrex]

The other good guys have given great responses.

All I would chip in is when it comes to remembering Hunter's I use "Hunter has to hunt, can't be blind so NO corneal clouding, also he's wearing a X on his body armour ( Remember fabry's and hunters are XR, others AR), hunting in sulfur fields like an idiot" Def iduronate sulfatase .

GL !

 

[Domenech]

Guys don't forget that the most common cause for a cherry red macula is Central Retinal Artery Occlusion!

 

[singinfifi]

I went kinda nuts on these today. Lemme know what you think
Fabry’s:
Don’t drop mom’s ceramic Faberge eggs in milk. It’ll break her heart.
You drop things because you have peripheral neuropathy, broken heart from CV disease, ceramic for ceramide trihexoside (the accumulated substance) and milk for a-galactosdase.

Gaucher’s disease
Glucose is so gauche. Carrying a big liver around? That’s really tacky, just get a purse. Go hide and cry into some crumpled tissues.
Gauche for gaucher’s, hepatosplenomegaly, macrophages look like crumpled tissue paper, glucocerebroside accumulates.

Niemann-Pick
I managed to pick a spring with foam in it. Great. This just keeps getting worse.
Spring for sphingomyelinase, foam cells, and progressive neurodegeneration

Tay-Sachs
I put my sachs of onions and cherries in the back of my GM truck. I sure hope they don’t get hexed.
Lysosomes with onion skin, hexosaminidase A is deficient, GM2 gangloside is what accumulates, and of course – cherry red spot.

Krabbe
I can’t see the globes in the galaxy. Makes me crabby.
Optic atrophy (can’t see), globoid cells (globes), galaxy for glacto

Metachromic leukodystrophy
Aryl had many colorful brothers, they made him clumsy and crazy.
Arylsulfatase A is messed up, cerebroside sulfate accumulates, it has ataxia and dementia. Colorful is for metachromatic.
Hurler’s
Hurlers ran around in a daze, they couldn’t see or breathe
a-L-iduronidase, heparan sulfate – corneal clouding, airway obstruction

Hunter’s
Nate is a hunter with a keen eye. He is aggressive and hates his mother.
Iduronate sulfatase, no corneal clouding, it has aggressive behavior and he hates his mother b/c she gave him an XLR disease.


I’d be pretty excited if anyone thought any of these were any good. They’re kind stupid, but I thought maybe they might help someone?Maybe not. I'm going back to my cave now. Good luck everyone <3

 

[greg1184]

Know them well too. They ARE asked in the real thing.

 

[aashkab]

Are these actually all lysosomal storage diseases? I think not.

I say to memorize (1.) the age at which they present, (2.) the organs involved, and (3.) the unique features.

Tay Sachs - First year of life, primarily brain and eyes, cherry red spot and very early death with regression in development, deafness + blindness + regression + Jewish background

Gaucher - First decade of life, primarily liver, spleen, and bone (organs with macrophages), mostly normal lifespan, wrinkly macrophages, organomegaly + fractures

Niemann Pick - Depends, some effects on marrow and some possible effects on CNS, foamy macrophages

Metachromatic leukodystrophy - First few years, all CNS, demyelinating disease with regression, Step 1 would probably give you description of brain at autopsy in question stem

Fabry's - Variable age, kidney, skin, and peripheral nerves, burning peripheral neuropathy and angiokeratomas, almost certainly will have neuropathy as part of Step 1 question stem

Hurler - First decade of life, marrow, CNS, and cornea, marrow expansion with "gargoyle"-like face

Hunter - Variable, less severe than Hurler, almost certainly not going to be test on Step 1 as it is VERY VERY VERY uncommon

Etc...

this is cool but out of curiosity, does the NBME ask questions other than using buzzwords and asking you for which enzyme is deficient or substrate is building up? the questions have all seemed very easy because the diagnosis is just off those one-two word buzzphrases.

i am though, relatively in experienced as i've only taken one practice nbme. please let me know, thanks

 

[PokerDoc]

this is cool but out of curiosity, does the NBME ask questions other than using buzzwords and asking you for which enzyme is deficient or substrate is building up? the questions have all seemed very easy because the diagnosis is just off those one-two word buzzphrases.

i am though, relatively in experienced as i've only taken one practice nbme. please let me know, thanks

You can be asked:

1) Symptoms- name the disease
2) what enzyme def or what substrate buildup is in disease X?
3) They give you the deficiency and you name the diesase
4) random: Fabrys and Hunter's are x-linked recessive; so if somehow you get a family tree, and only boys have it and youre not sure but u know its a LSD, its one of those. All the others are AR

thats basically the ways ive seen it come up

 

[PokerDoc]

Are these actually all lysosomal storage diseases? I think not.

I say to memorize (1.) the age at which they present, (2.) the organs involved, and (3.) the unique features.

Tay Sachs - First year of life, primarily brain and eyes, cherry red spot and very early death with regression in development, deafness + blindness + regression + Jewish background

Gaucher - First decade of life, primarily liver, spleen, and bone (organs with macrophages), mostly normal lifespan, wrinkly macrophages, organomegaly + fractures

Niemann Pick - Depends, some effects on marrow and some possible effects on CNS, foamy macrophages

Metachromatic leukodystrophy - First few years, all CNS, demyelinating disease with regression, Step 1 would probably give you description of brain at autopsy in question stem

Fabry's - Variable age, kidney, skin, and peripheral nerves, burning peripheral neuropathy and angiokeratomas, almost certainly will have neuropathy as part of Step 1 question stem

Hurler - First decade of life, marrow, CNS, and cornea, marrow expansion with "gargoyle"-like face

Hunter - Variable, less severe than Hurler, almost certainly not going to be test on Step 1 as it is VERY VERY VERY uncommon

Etc...

DEF remember enzyme's involved too. at least thats my opinion, wish flashcards its takes an hour tops.

 

[Jamiu22]

def remember enzyme's involved too. At least thats my opinion, wish flashcards its takes an hour tops.

bump!

 

[nathanjon]

Going to echo the above and additionally note that all of these diseases are disorders of children (pediatric patients). Most are fatal before adulthood due to metabolic problems and failure to thrive.

The enzymes are the hardest part. I'd recommend using visual mnemonics (aka pixorize or sketchy) for the rest.