drk1980
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e?
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| skyhigh
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why?
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| sturge_weber
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she has porphyria cutanea tarda, undergone phelebotomy, several times, and the urod ie uroporphyrinogen decarboxylase is deficient, and hence uroporhyrins accumulate in urine and turn port wine colour
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| drk1980
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bcoz its a case of AIP(acute intermittent porphyria)in wch the enz def causes a build of its substrate, porphobilinogen, wch can impart a classic port wine color to the urine upon standing..
inc in uro/coproporhyrin will occur in enz deficiencies at later stage in the heme synthesis pathway...
urobilinogen and positive for blood are distractors.
Someone plz point out mistakes, if any...
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| sturge_weber
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well i thought it is porphyria cutanea tarda, drk, u dont do phlebotomy in aip
what u think
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| drk1980
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tht line in the Q whr it says she doesnt hv photosensitivity, i sort of ruled out cutanea tarda......also why are we talking phlebotomy here?
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| sturge_weber
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multiple scars on the abdomen
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| drk1980
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multiple "Surgical" scars on abdomen. anthr classic sign of AIP cuz they present with episodes of severe abdo pain tht cud mimic acute abdomen....
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| drk1980
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skyhigh, maybe u shd gv the answer before any further discussion.....i may be totally off track
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| skyhigh
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yes , it's E, but i didn't know why
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| sturge_weber
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well may be u re right, its aip, ....
ya u re right no photosensivity rules out pct
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| guangyu
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it is aip
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| sturge_weber
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Intermitent Acute Porphyria: The majority of patients are assymptomatic. Signs and symptoms rarely start before puberty. The initial and commonest manifestation is abdominal pain, which can be diffuse or localized, colicky. The clinical picture may mimic an accute inflammatory abdominal disease. It is caused by an altered autonomic activity. Peripheral neuropathy is primarily motor, beginning in proximal muscles, more often in the arms. Cranial nerves manifestations my lead to optic nerve atrophy. CNS abnormalities include seizures, delirium and coma. Hepatic dysfunctions are common. Precipitating factors are drugs as barbiturates, sulfonamides, estrogens and dietary restriction of carbohydrates. Diagnosis is made on clinical grounds and increased erythrocytic and urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic intermediates of heme).
Porphyria Cutanea Tarda (PCT) : PCT is the most common form of porphyria. It is an adquired disorder, associated with estrogen and alcohol use. Photosensitivity is the only major manifestation. Cutaneous manifestations are dermoabrasions, superficial erosions and blister formation after trivial mechanical trauma. The lesions leave depigmented and pigmented scars. Hypertricosis and hirsutism may occur.
Diagnosis can not be stabilished on clinical grounds. Therefore it is essential to measure metabolites of heme as uroporphirin and 7-carboxilase porphyrin in urine and coproporphyrin in feces. Repeated phlebotomies is the treatment of choice. Chloroquine is useful when phlebotomies are contraindicated. Alcohol and estrogen should be discontinued.
well got it now, except for thr scars part
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| drk1980
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sturge_weber wrote:
Intermitent Acute Porphyria: The initial and commonest manifestation is abdominal pain, which can be diffuse or localized, colicky. The clinical picture may mimic an accute inflammatory abdominal disease. It is caused by an altered autonomic activity.
well got it now, except for thr scars part
this is a classical pic of AIP. bcoz of the acute abdomen clinical presentation....many ER physicians mistake it for a surgical abdomen and refer them to the surgeons....who very promptly open them up to cure all! and end up finding no pathology. there are many episodes of this and hence 'numerous surgical scars on abdomen'.
Hope this ws of some help..
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| docarchana
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its E due to acute intermittent porphyria..
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| new_n_lost
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yup its AIP cos the question did point 2 things no photosensitivity, n presence of multiple abdominal surgical scars Dr. Goljan did mention that in his lectures
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