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Acute porphyrias: clinical spectrum of hospitalized patients
Mughis Sheerani1, Mian Zainulsajadeen Urfy, Ali Hassan
1Department of Medicine, Section of Neurology, The Aga Khan University, Karachi.
Objective:
To determine characteristics, clinical features and triggers of acute porphyria in hospitalized patients presenting to a tertiary care center in Pakistan.
Design:
Case series.
Place And Duration Of Study:
The Aga Khan University Hospital, Karachi, from 1988 to 2003.
Patients And Methods:
Case records of 26 patients hospitalized with diagnosis were identified through computerized hospital patients' data. The diagnosis of acute porphyria was based on pertinent clinical features and laboratory investigations after exclusion of other alternative diagnosis and patients previously diagnosed as porphyric. The data was analyzed through SPSS software version 11.0.
Results:
Twelve patients (46.2%) were males. Mean age was 21 years. Most common manifestation were gastrointestinal (n=22; 88.5%) followed by neurological symptoms (n=14; 54%). Neurological manifestations included seizures (n=9; 34.6%) and neuropathy (n=6; 23%). One patient presented with depression and insomnia. Family history was positive in (n=8; 30.8%). Eighteen (69%) had history of previous attacks at their presentation to the hospital. Most common precipitating factor was 'eating outside' (n=18; 69%).
Conclusion:
Porphyrias are uncommon and cryptic group of diseases. This study shows a slightly different gender distribution, earlier onset of symptoms, higher number of neuropsychiatric symptoms (especially seizures), more distal neuropathies and different precipitant in the studied subset of patients than described previously in the western studies.
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