S16 PATHOLOGY 2018 ABSTRACT SUPPLEMENT
long-term disease stabilisation and improvement in five-year
survival in selected patients with cALD.
References
1. Berger J, Gärtner J. X-linked adrenoleukodystrophy: clinical,
biochemical and pathogenetic aspects. Biochim Biophys Acta 2006;
1763: 1721–32.
2. Mahmood A, Dubey P, Moser HW, et al. X-linked adrenoleukodys-
trophy: therapeutic approaches to distinct phenotypes. Pediatr Trans-
plant 2005; 9 (Suppl 7): 55.
3. Petryk A, Polgreen LE, Chahla S, et al. No evidence for the reversal of
adrenal failure after hematopoietic cell transplantation in X-linked adre-
noleukodystrophy. Bone Marrow Transplant 2012; 47: 1377–8.
A CASE OF SEVERE HYPERTRIGLYCERIDAEMIA AND
HYPERCHOLESTEROLAEMIA
Jun Guan Tan
Department of Laboratory Medicine, Khoo Teck Puat Hospital,
Singapore
Case: A 55-year-old Chinese woman, with known history of
depression and chronic alcoholism was referred from primary
care to internal medicine clinic for dyslipidaemia (triglycerides
>35 mmol/L, total cholesterol >20.7 mmol/L, HDL-C 1.03
mmol/L, measured LDL-C 2.04 mmol/L, Roche Cobas c702).
This was her first known lipid profile. She was started on ator-
vastatin and fenofibrate by primary care. The repeat bloods at
internal medicine clinic one and half months later showed
persistence of the dyslipidaemia (triglycerides >35 mmol/L, total
cholesterol 17.38 mmol/L, HDL-C 1.14 mmol/L and measured
LDL-C 1.82 mmol/L). In view of persistently elevated triglyc-
eride level, normal LDL-C, normal HDL-C and a mild lipaemic
index, the internist suspected glycerol kinase deficiency and
alerted the case to chemical pathology. Review of LIS (Labo-
ratory Information Systems) records showed that the first sample
obtained by primary care was lipaemic (L-index 643). Further
LIS records show that there were various bloods sent in the past
with both abnormal and normal lipaemic indices, suggestive of a
more transient cause such as alcohol binge. Her triglycerides
normalised one month later. This case illustrates the differential
diagnoses of severe hypertriglyceridaemia and describes how the
availability of lipaemic indices for previous blood samples may
suggest a persistent aetiology to be less likely.
DEADLY ALCOHOLIC FOG: UNUSUAL SOURCE OF
ETHYLENE GLYCOL INGESTION IN AN INFANT
Oliver Treacy1, Urs Wilgen1,2
1
Department of Chemical Pathology, Pathology Queensland
Central laboratory, Herston Hospital Campus, Herston, and
2
School of Medicine, University of Queensland, Herston, Qld,
Australia
Ethylene glycol poisoning is becoming less common due to
limiting its use in products, however this can cause complacency,
especially when clinicians are unaware of its typical clinical and
biochemical findings. When potential poisoning has taken place,
care must be taken to identify its source. We present a case
involving a 21 month old infant who was accidentally fed fog
machine fluid, who subsequently presented to the emergency
department sedated and ataxic.
Pathology (2018), 50(S1)
The importance of detecting ethylene glycol exposure early is
important, as ethanol or fomepazole is preferentially metabolised
by the alcohol dehydrogenase, acting as a competitive inhibitor
and preventing ethylene glycol being metabolised to toxic me-
tabolites, which may contribute to kidney, cardiopulmonary, and
neurological deficits.1
The gold standard for ethylene glycol testing is direct serum/plasma
levels, but there are a number of disadvantages to this, including
limited availability, delayed release of results, and volatile nature of
the analyte.2 Hence, routinely available investigations can greatly
aid in workup in an emergency setting, including measured
osmolality and the osmolar gap, anion gap, blood gas measure-
ments to assist in acid-base status, and other serum markers.
References
1. Kruse JA. Methanol and ethylene glycol intoxication. Crit Care Clin
2012; 28: 661–711.
2. McQuade DJ, Dargan PI, Wood DM. Challenges in the diagnosis of
ethylene glycol poisoning. Ann Clin Biochem 2014; 51: 167–78.
CLINICAL APPLICATIONS OF HIGH RESOLUTION
MASS SPECTROMETRY
Jeffrey D. Pope1,2
1
Clinical Biochemistry, Alfred Health, Melbourne, and
2
Department of Forensic Medicine, Monash University, Vic,
Australia
Mass spectrometry has become a common technique in the
clinical laboratory. Coupled with liquid chromatography, it can
detect a wide variety of compounds with differing physico-
chemical properties and typically requires less labour-intensive
sample preparation. The versatility of mass spectrometry has
made it a method of choice in a variety of scientific areas.
Common applications in the clinical laboratory include thera-
peutic drug monitoring, toxicology testing, newborn screening as
well as some applications in endocrinology.
High-resolution mass spectrometry (HRMS) offers the same
benefits as low resolution mass spectrometry, with the added
benefit of accurate mass determinations. This ability to measure
accurate mass to four or five decimal places enables differentiation
of compounds with the same nominal mass. Accurate mass mea-
surements also allow the elucidation of ‘unknown’ compounds.
In this lecture, we will learn about high-resolution mass spec-
trometry, highlight some of the applications and outline its po-
tential for the clinical laboratory.
THE EVALUATION OF MEDICAL TESTS: FROM
RESULTS TO CONSEQUENCES
Patrick M. M. Bossuyt
Department of Clinical Epidemiology, Biostatistics and
Bioinformatics, Amsterdam Public Health Research Institute,
Academic Medical Center, University of Amsterdam, the
Netherlands
Like all other interventions in health care, medical tests should be
thoroughly evaluated before they are introduced into daily
clinical practice. There should be sound evidence to support the
recommendations about testing in clinical practice guidelines, to
provide coverage through reimbursement decisions, or to invest
in testing technology at the hospital level.