Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

2 DERMATOLOGY > Porphyrias > Flashcards

Porphyrias Flashcards

You may prefer our related Brainscape-certified flashcards:
Dermatology Board Prep flashcards
1
Q

what are porphyrias

A

a group of disorders leading to the build up of porphyrin in the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is porphyrin

A

a pre-cursor protein to haem which formed haemoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what are the 4 main presentations of porphyrias

A

phytotoxic skin porphyrias

blistering and fragile skin

Acute attack

Severe congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what are the 3 types of porphyria

A

Erythropoetic protoporphyria (EPP)

Porphyria cutaneous trade (PCT)

Acute intermittent porphyria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is porphyria cutanea tarda

A

uroprophyrinogen decarboxylase abnormality (usually acquired)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what are some potential causes of PCT

A 
alcohol excess
viral hepatitis 
oestrogens 
haemochromatosis 
hepatoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

how do you investigate PCT

A

Wood’s lamp - shine light on urine - goes pink if excess porphyrins

Spectrophotometer - shine light through plasma, if it goes red they have PCT

can do skin biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

management of PCT

A

determine the underlying cause (eg, hepatoma, cirrhosis) and treat that

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is erythropoietic protoporphyria

A

a genetic disease due to an inherited deficiency in the FERROCHELATASE enzyme.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

how does erythropoietic protoporphyria present

A

symptoms present in childhood

uncomfortable pain/burning sensation on skin after sun exposure

later develop pitted scars, crusty thickened skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

which porphyria has a risk of liver disease

A

erythropoietic protoporythria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

investigations for erythropoietic protoporphyria

A

UV microscopy - red blood cell fluoresence

Quantative RBC protoporphryns count

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

management of erythropoietic protoporphyria

A 
genetic counselling 
6 monthly LFTs 
visible light protection measures 
Porphylactic TL-01 phototherapy 
Vitamin D supplements (for those who completely avoid the sun)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what are some visible light protection measures

A

Behavioural (eg. avoid sun)
Clothing
Environmental (shade, window films etc)
Topical sin creams

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is acute intermittent porphyria

A

rare autosomal dominant metabolic disorder

deficiency of porphobinogen deaminase enzyme (PBG)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

how does acute intermittent porphyria present

A 
GI symptoms 
Confusion, hallucinations 
urinary retention 
muscle weakness 
back, arm, leg pain

2 DERMATOLOGY (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions