1.Acute Intermittent Porphyria: A rare cause of hyponatraemia
The Malaysian Journal of Pathology 2019;41(3):369-372
Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism. Case Report: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Conclusion: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease.
2.Screening for phaeochromocytoma in patients with acute cerebrovascular disease: Is it necessary?
The Malaysian Journal of Pathology 2020;42(2):203-207
Introduction: Phaeochromocytoma may present with uncontrolled hypertension leading to haemorrhagic
stroke (HS), ischaemic stroke (IS) and transient ischaemic attack (TIA). False elevation in the levels
of CATS/ METS has been reported in acute cerebrovascular disease. Our aim was to analyse the
frequency and pattern of elevations of CATS/METS in patients with acute cerebrovascular disease
and to determine associated factors. Materials and Methods: This is a retrospective study of 112
samples of CATS/ METS received by the laboratory over a two-year period, from patients with acute
cerebrovascular disease. CATS/METS were measured using LC/MS/MS method. Clinical details and
CATS/METS level were obtained from the database. Mann-Whitney U test and Kruskal Wallis test
were used for statistical analysis. These statistical analyses were performed using SPSS v.20.0 (IBM
Corp., Armonk, NY, USA). Results: Of the 112 patients, 39% had HS, 54% had IS and 7% had TIA.
A total of 29% of patients had elevated CATS/ METS. Elevated levels of CATS/METS were noted
in 41% and 25% of HS and IS patients, respectively (p=0.53). Median norepinephrine, epinephrine
and metanephrine levels in HS were significantly higher than IS (p< 0.05). Systolic blood pressure
was higher in those who had elevated CATS/ METS (p=0.04). Only for two patients with elevated
CATS/METS repeat testing was performed. Age, diastolic blood pressure and the time of sample
collection in relation to the presentation, for CATS/METS were not significantly different between
groups that had elevated levels of CATS/ METS versus those who did not. Conclusion: We noted
that CATS/METS were elevated in one-third of patients, especially in patients with high systolic
blood pressure. Increase in CATS/METS should be appropriately followed up with repeat testing.
Since false elevation in CATS/METS has been reported in cerebrovascular disease, screening for
phaeochromocytoma is best deferred for a month.