Displaying publications 1 - 20 of 805 in total

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  1. Chiew SF, Toh YF, Looi LM, Cheah PL
    Malays J Pathol, 2023 Dec;45(3):473-478.
    PMID: 38155388
    Jejunal diverticulosis is uncommon and so are gastrointestinal stromal tumours (GIST) arising in the jejunum. GIST arising in a jejunal diverticulum is a rarity and to date there are only 7 cases in the English literature. Our case of GIST occurring in a jejunal diverticulum of a 48-year-old lady would be the first reported in Malaysia and the 8th in the world. As in most cases, the clinical presentation and radiological findings of this patient were non-specific. With a history of acute abdominal pain, vomiting and fever, the patient was provisionally diagnosed as a case of twisted ovarian cyst and subjected to laparotomy. An intact roundish jejunal diverticulum 5.0 cm x 5.0 cm, about 50 cm distal to the duodeno-jejunal junction was found and resected with a segment of small intestine. Microscopic examination showed a tumour of the cut open diverticular wall, with epithelioid to spindled cells, demonstrating a mitotic rate of 1-2 per 5 mm2, confined to, while infiltrating the wall of the diverticulum. The immunohistochemical profile of positive staining for CD117, DOG-1, smooth muscle actin and CD34, and negative expression of desmin and S100 protein, clinched the diagnosis of GIST. Based on the AFIP Criteria for risk stratification,1 the patient was categorised as having moderate risk for disease progression, and was not offered further targeted imatinib as an immediate measure. The patient has remained well at the time of writing i.e. 8 months following excision, and continues on active surveillance by the surgical and oncological teams, with the option of imatinib, should the necessity arise. This case is presented not merely for the sake of documenting its rarity, but as a reminder to stay alert for uncommon conditions in histopathology practice.
  2. Hanim BS, Rahim RA, Mohd Salleh MF, Zakaria H, Abd Shukor N
    Malays J Pathol, 2023 Dec;45(3):463-471.
    PMID: 38155387
    INTRODUCTION: Chorioamnionitis is the inflammation of the placenta and is histologically defined as the presence of neutrophilic infiltration into the chorio-amnion membrane with and without involvement of the umbilical cord. Currently, the inflammatory mediators involved in the eliciting of inflammatory response is still largely under investigation. CD47 and CD36 are pro-inflammatory molecules that are still under investigation. The aim of this study was to determine the expressions of CD47 and CD36 in the placenta of mothers with chorioamnionitis.

    MATERIALS AND METHODS: This was a cross-sectional study, involving a total of 100 cases that comprised of acute subchorionitis (stage I, n=20), acute chorioamnionitis (stage II, n=20), acute necrotising chorioamnionitis (stage III, n=20) and non-chorioamnionitis placenta as control (n=40). All tissue blocks were retrieved from the archived pathology record over a period of 4 years. CD36 and CD47 immunohistochemistry were performed on all cases and their expression in various cell types on the placenta were analysed.

    RESULTS: CD36 was expressed only on the foetal vascular endothelial cells. Interestingly, CD47 showed positive staining on the neutrophils and its expression was significantly different between maternal inflammatory response stage II chorioamnionitis (n=13/20, p<0.001) with stage I and stage III chorioamnionitis.

    DISCUSSION: Our study showed CD47 was expressed in the neutrophils and it was associated with poorer perinatal outcomes and it may have a role in the pathogenesis of chorioamnionitis.

  3. Mohamad MA, Ahmad Asnawi AW, Suhiman MS, Sathar J, Hayati AR, Abdul Rahim NS, et al.
    Malays J Pathol, 2023 Dec;45(3):425-440.
    PMID: 38155384
    The onset of obstetric antiphospholipid syndrome (APS) occurs when antiphospholipid antibodies act upon the placenta. During pregnancy, APS exhibits traits such as vascular thrombosis, inflammation, and hindered trophoblast implantation. The involvement of microRNA expression has been proposed as a genetic factor contributing to the syndrome's development. MicroRNAs play a role in regulating gene expression in various cellular processes, including the formation of placental tissue. Therefore, additional research is needed to explore the control of placental miRNA in APS. In this study, we aimed to profile miRNA expressions from placenta tissue of patients with APS. Differentially expressed miRNAs were determined for its targeted genes and pathways. Agilent microarray platform was used to measure placental microRNA expressions between normal placental tissue and those obtained from patients with APS. Differentially expressed miRNAs were detected using GeneSpring GX software 14.2 and sequences were mapped using TargetScan software to generate the predicted target genes. Pathway analysis for the genes was then performed on PANTHER and REACTOME software. Selected miRNAs and their associated genes of interest were validated using qPCR. Microarray findings revealed, 9 downregulated and 21 upregulated miRNAs expressed in placenta of patients with APS. Quantitative expressions of 3 selected miRNAs were in agreement with the microarray findings, however only miR-525-5p expression was statistically significant. Pathway analysis revealed that the targeted genes of differentially expressed miRNAs were involved in several hypothesised signalling pathways such as the vascular endothelial (VE) growth factor (VEGF) and inflammatory pathways. VE-cadherin, ras homolog member A (RHOA) and tyrosine kinase receptor (KIT) showed significant downregulation while Retinoblastoma gene (RET), Dual specificity protein phosphatase 10 (DUSP10) and B-lymphocyte kinase (BLK) genes were significantly upregulated. These preliminary findings suggest the involvement of miRNAs and identified novel associated genes involvement in the mechanism of obstetric APS, particularly through the alteration of vascular-associated regulators and the inflammatory signalling cascade.
  4. Eng ZH, Ahmad Jefry MM, Ng KL, Abdul Aziz A, Mat Junit S
    Malays J Pathol, 2023 Dec;45(3):375-390.
    PMID: 38155379
    Thyroid malignancy status is usually confirmed through histopathological examination (HPE) following thyroidectomy. In Malaysia, the application of molecular markers in pre-operative diagnosis of thyroid cancer remains unexplored. In this study, BRAF and NRAS gene mutation panel was assessed, and the results were compared with retrospective HPE findings. Malaysian patients with benign goitre (BTG: n=33) and papillary thyroid cancer (PTC: n=25; PTCa: n=20, PTCb: n=5) were recruited at Universiti Malaya Medical Centre from September 2019 to December 2022. PCR-direct DNA sequencing of BRAFV600, NRASG12, NRASG13, and NRASQ61 was conducted on DNA extracted from the patients' thyroid tissue specimens following thyroidectomy and HPE. BRAFV600E and NRASQ61R mutations showed absolute PTC-specificity with PTC-sensitivity of 32% and 28%, respectively. NRASQ61H demonstrated lower PTC-specificity (94%) but higher PTC-sensitivity (72%) compared to the BRAFV600E and NRASQ61R mutations. Although the NRASG12 and NRASG13 variants were absent in this study, a novel NRASV14D mutation was detected in a PTCa patient. Unlike PTCb, coexistence of BRAFV600E and NRASQ61 variants was commonly observed among the PTCa patients. Notably, all PTCb patients had NRASQ61H mutation with one patient carried both the NRASQ61H and BRAFV600E mutations. Association analysis revealed potential link between gender, BRAFV600E mutation and lymph node metastasis. In conclusion, mutation panel comprising BRAFV600E, NRASQ61R, and NRASQ61H did not discriminate the two PTC subtypes but replicated the retrospective HPE findings in differentiating BTG from PTC. The application of this mutation panel in pre-operative diagnosis of thyroid nodules requires further validation in a larger sample size, preferably incorporating fineneedle aspirate biopsies.
  5. Ismadi YKM, Mohamad S, Harun A
    Malays J Pathol, 2023 Dec;45(3):397-403.
    PMID: 38155381
    A rapid and accurate diagnosis of invasive fungal infections (IFIs) has been a great challenge particularly in cases requiring prompt antifungal treatment. In this study, four primer pairs were designed for a quadruplex PCR assay, which was developed for detection of four fungal species simultaneously. DNA extraction of cultured colonies and spiked blood samples were performed using conventional (phenol-chloroform) techniques and commercial DNA extraction kit. The optimum annealing temperature for this assay was 60°C. The assay was able to amplify all four genes and showed 100% specificity. No amplification of any genes was obtained against other species (n=14), which included two bacteria species. In conclusion, this quadruplex PCR assay is specific, rapid and reliable to detect A. fumigatus, A. terreus, C. albicans and C. glabrata simultaneously.
  6. Boo NY, Lee Ang EL, The Malaysian National Neonatal Registry
    Malays J Pathol, 2023 Dec;45(3):441-456.
    PMID: 38155385
    BACKGROUND: Information on incidence and risk factors associated with different types of neonatal pneumothorax were lacking globally.

    OBJECTIVES: To determine incidences of pneumothorax developed spontaneously and during different modes of respiratory support, and risk factors associated with each type of pneumothorax.

    STUDY DESIGN: Retrospective observational study of neonates in the Malaysian National Neonatal Registry.

    SETTING: 44 Malaysian neonatal intensive care units (NICUs).

    PARTICIPANTS: All neonates born in 2015-2020 and admitted to NICUs.

    RESULTS: Pneumothorax developed in 3265 neonates: 37.5% occurred spontaneously, 62.5% during respiratory support. The incidence of all types of pneumothorax was 1.75 per 1000 livebirths, and of spontaneous pneumothorax was 0.58 per 1000 livebirths. Pneumothorax developed in 0.6% (450/70512) of neonates during continuous positive air way pressure therapy (nCPAPt), 1.8% (990/54994) of neonates during conventional mechanical ventilation (CMV), and 7.0% (599/8557) of neonates during high frequency ventilation (HFV). Term neonates had significantly higher pneumothorax rate than preterms (p<0.001). Multiple logistic regression analyses show that exposure to intermittent positive pressure ventilation and chest compression at birth were significant independent factors associated with increased risk of spontaneous pneumothorax and CMV, and persistent pulmonary hypertension was associated with increased risk of spontaneous pneumothorax and pneumothorax during CMV and HFV.

    CONCLUSIONS: The most common type of pneumothorax was spontaneous in-onset. Neonates on HFV had the highest and those on nCPAPt the lowest rate of pneumothorax. Improving training of resuscitation techniques at birth and strategies of use of invasive modes of respiratory support may reduce incidences of all types of pneumothorax.

  7. Chiew SF, Looi LM, Cheah PL, Teoh KH, Chang SW, Abdul Sani SF
    Malays J Pathol, 2023 Dec;45(3):363-374.
    PMID: 38155378
    Epithelial-mesenchymal transition (EMT) is increasingly explored in cancer progression. Considering that triple negative (TN) breast cancer has the poorest survival among molecular subtypes, we investigated 49 TN, 45 luminal and 25 HER2-enriched female breast carcinomas for EMT expression (using E-cadherin and vimentin immunohistochemistry) against lymphovascular and/or lymph node invasion. E-cadherin and vimentin expressions were semi-quantitated for positive- cancer cells (0=0-<1%, 1=1-10%, 2 =11-50%, 3=>50%) and staining intensity (0=negative, 1=weak, 2=moderate, 3=strong), with final score (low=0-4 and high=6-9) derived by multiplying percentage and intensity scores for each marker. Low E-cadherin and/or high vimentin scores defined EMT positivity. Low E-cadherin co-existing with high vimentin defined "complete" (EMT-CV), while low E-cadherin (EMT-C) or high vimentin (EMT-V) occurring independently defined "partial" subsets. 38 (31.9%) cancers expressed EMT, while 59.2 % TN, 13.3% luminal and 12% HER2-enriched cancers expressed EMT (p<0.05). Among the cancers with lymphovascular and/or lymph node invasion, EMT positivity by molecular types were 66.7% TN, 7.4% luminal and 11.8% HER2-enriched (p<0.05). Although EMT-V, associated with stem-cell properties was the dominant TN EMT profile, EMT-CV, a profile linked to vascular metastases, was encountered only in TN. EMT appears important in TN cancer and different EMT profiles may be associated with its aggressive nature.
  8. Lee PY, Md Azhan FS, Low TY
    Malays J Pathol, 2023 Dec;45(3):317-331.
    PMID: 38155375
    During the last few decades, the treatment options available for patients with metastatic colorectal cancer (mCRC) have undergone continuous improvements, transitioning from conventional chemotherapy to targeted therapy. These therapeutic innovations have led to significant improvements in patient clinical outcomes. However, there remains a need to improve the outcome for many CRC patients. Chemotherapy remains a cornerstone of CRC treatment, but the wide variability in tumour response and adverse reactions to chemotherapy poses a challenge to cancer treatment management. As a result, there is an unmet need to identify predictive biomarkers of chemotherapeutic response to guide treatment decisions. In this review, we summarise the conventional biomarkers used to predict chemotherapy responses in CRC and provide an overview of emerging predictive biomarkers based on the current understanding of the molecular biology of treatment response. Finally, we explore the challenges and future prospects of biomarker discovery to improve the prediction of patient response and ensure optimal treatment management for patients with metastatic CRC.
  9. Kachkoul R, Touimi GB, El Mouhri G, El Habbani R, Mohim M, Lahrichi A
    Malays J Pathol, 2023 Dec;45(3):333-352.
    PMID: 38155376
    Urolithiasis is defined as a disease diagnosed by the presence of one or more stones in the urinary tract. It is one of the oldest and most widespread diseases known to man, their discovery and characterisation chronology began with the civilisation's history. This pathology has a multifactorial aetiology, very frequent worldwide with geographic and racial variation, their prevalence is increasing in lockstep with socioeconomic development. In fact, this disorder affects between 2 and 20% of the population, with an approximate recurrence rate of 30% to 50% in 5 years. Furthermore, calciumtype stones, which are composed of calcium oxalate (CaOx) alone or a mixture of CaOx and calcium phosphate are the most common, accounting for more than 80% of cases. The medical management of urolithiasis is done by medical treatments and/or by surgical intervention for the stones extraction by the techniques such as extracorporeal shock wave lithotripsy (ESWL), ureteroscopy (URS), percutaneous nephrolithotomy (PCNL) and open surgery. However, various therapies, including thiazide diuretics and alkaline citrate, are used in an attempt to prevent stones recurrence induced by hypercalciuria and hyperoxaluria, but the scientific evidence for their effectiveness is less convincing. On the other hand, endoscopic and ESWL methods have revolutionised the treatment of urinary lithiasis, but these costly methods, can cause acute kidney injury and decreased renal function, in addition, do not prevent the probability of new stone formation. The deepening of our knowledge on all points relating to this disease is a priority for specialists in order to find adequate solutions for this disease. This review provides an overview of urolithiasis, its history, epidemiology, clinical manifestation, diagnosis and treatment methods.
  10. Tan RZ, C Thambiah S, Loh TP, Vasikaran S, Yeap SS
    Malays J Pathol, 2023 Dec;45(3):391-396.
    PMID: 38155380
    BACKGROUND: Well defined reference intervals are central to the utility of serum C-terminal telopeptide of type 1 collagen (CTX) and N-terminal propeptide of type I procollagen (P1NP), designated as reference markers in osteoporosis, and useful for monitoring therapeutic response in that condition. This study reports the reference intervals for plasma CTX and serum P1NP in a multi-ethnic Malaysian population.

    METHODS: Ethnic Malay, Chinese or Indian subjects aged 45-90 years old were recruited from Selangor, Malaysia from June 2016 to August 2018. Subjects with known medical conditions (e.g., bone disorders, malnutrition, immobilisation, renal impairment, hormonal disorders) and medications (including regular calcium or vitamin D supplements) that may affect CTX and P1NP were excluded. Additionally, subjects with osteoporosis or fracture on imaging studies were excluded. The blood samples were collected between 8 a.m. and 9 a.m. in fasting state. The CTX and P1NP were measured on Roche e411 platform in batches.

    RESULTS: The 2.5th-97.5th percentiles reference intervals (and bootstrapped 90%CI) for plasma CTX in men (n = 91) were 132 (94-175) - 775 (667-990) ng/L; in post-menopausal women (n = 132) 152 (134-177) - 1025 (834-1293) ng/L. The serum P1NP reference intervals in men were 23.7 (19.1-26.4) - 83.9 (74.0-105.0) µg/L, and in post-menopausal women, 25.9 (19.5-29.3) - 142.1 (104.7-229.7) µg/L.

    CONCLUSION: The reference intervals for plasma CTX and serum PINP for older Malaysian men and post-menopausal women are somewhat different to other published studies from the region, emphasising the importance of establishing specific reference intervals for each population.

  11. Chia WK, Yeoh HXY, Mustangin M, Khong TY, Wong YP, Tan GC
    Malays J Pathol, 2023 Dec;45(3):353-362.
    PMID: 38155377
    INTRODUCTION: Hydatidiform mole is one of the gestational trophoblastic disease and comprises complete (CM) and partial moles (PM), which carries a risk of developing persistence disease, invasive mole or choriocarcinoma. MicroRNAs (miRNAs) have been discovered in various tissues, including neoplastic tissues. Its role in the pathogenesis of molar pregnancy or as biomarkers are still largely uncertain. The aim of this study is to identify the differentially expressed miRNAs in CM and PM.

    MATERIALS AND METHODS: Using next-generation sequencing, the miRNAs profiles of CM (n=3) and PM (n=3) moles, including placenta of non-molar abortus (n=3) as control were determined. The differentially expressed miRNAs between each group were analysed. Subsequently, bioinformatics analysis using miRDB and Targetscan was utilised to predict target genes.

    RESULTS: We found 10 differentially expressed miRNAs in CMs and PMs, compared to NMAs, namely miR- 518a-5p, miR-423-3p, miR-503-5p, miR-302a-3p, and miR-1323. The other 5 miRNAs were novel, not listed in the known database. The 3 differentially expressed miRNAs in CMs were predicted to commonly target ZTBT46 and FAM73B mRNAs.

    DISCUSSION: miR-518 was consistently observed to be downregulated in CM versus PM, and CM versus NMA. Further bioinformatic analysis to provide insight into the possible role of these miRNAs in the pathogenesis of HMs, progression of disease and as potential diagnostic biomarkers as well as therapeutic targets for HMs is needed.

  12. Bal PK, Nah SA, Wan Mohamad Noor WMR, Md Nor MT, Singaravel S, Tan WS, et al.
    Malays J Pathol, 2023 Dec;45(3):457-462.
    PMID: 38155386
    Hirschsprung's Disease (HD) is a congenital disorder causing severe constipation in infants and children. Suction rectal biopsy (SRB) is the preferred technique for obtaining tissue samples for histopathological evaluation. In low-resource settings like Malaysia, cost-effective diagnostic approaches are necessary, making single sample SRB valuable. This study evaluates the diagnostic accuracy and sufficiency of a single macroscopically adequate sample in suction rectal biopsies for the histopathological confirmation of HD. We conducted a retrospective study of children who underwent suction rectal biopsies for the diagnosis of HD at Hospital Raja Perempuan Zainab II (HRPZII), Kota Bharu, Kelantan. A total of 68 patients were included in the study. The inadequacy rate for bedside SRB was 14%, comparable to current literature. Our study found no statistically significant association between sample inadequacy and gestational age, gender, birth weight, or weight at biopsy. Complication rates were 0%, consistent with literature reports. Calretinin staining, an additional technique, was performed in 23 biopsy episodes, with a 4.3% inadequacy rate, compared to 20% in specimens not subjected to calretinin staining. The cost of SRB almost doubled with each additional sample taken, significant in low-resource environments. In conclusion, single sample SRBs can be adequately diagnostic and cost-effective in low-resource settings, providing valuable insights for healthcare facilities in Malaysia and other developing countries. The use of adjunctive techniques such as calretinin staining may improve diagnostic accuracy while maintaining cost-effectiveness. Further prospective studies with larger sample sizes are needed to validate these findings.
  13. Navarathinam SD, Neoh HM, Tan TL, Wahab AA, Mohd Nizam Tzar MN, Ding CH
    Malays J Pathol, 2023 Dec;45(3):417-424.
    PMID: 38155383
    BACKGROUND: Candida tropicalis is a globally distributed yeast that has been popping up in the medical literature lately, albeit for unenviable reasons. C. tropicalis is associated with substantial morbidity, mortality as well as drug resistance. The aims of this study were to ascertain the antifungal susceptibility profile and the biofilm-producing capability of this notorious yeast in our centre.

    METHODS: C. tropicalis isolates from sterile specimens were collected over a 12-month period. Conclusive identification was achieved biochemically with the ID 32 C kit. Susceptibility to nine antifungal agents was carried out using the colourimetric broth microdilution kit Sensititre YeastOne YO10. Biofilm-producing capability was evaluated by quantifying biomass formation spectrophotometrically following staining with crystal violet.

    RESULTS: Twenty-four non-repetitive isolates of C. tropicalis were collected. The resistance rates to the triazole agents were 29.2% for fluconazole, 16.7% for itraconazole, 20.8% for voriconazole and 8.3% for posaconazole-the pan-azole resistance rate was identical to that of posaconazole. No resistance was recorded for amphotericin B, flucysosine or any of the echinocandins tested. A total of 16/24 (66.7%) isolates were categorized as high biomass producers and 8/24 (33.3%) were moderate biomass producers. None of our isolates were low biomass producers.

    CONCLUSION: The C. tropicalis isolates from our centre were resistant only to triazole agents, with the highest resistance rate being recorded for fluconazole and the lowest for posaconazole. While this is not by itself alarming, the fact that our isolates were prolific biofilm producers means that even azole-susceptible isolates can be paradoxically refractory to antifungal therapy.

  14. Yang CF, Hsu CY, Hsiao LT, Chen SW, Chuang SS
    Malays J Pathol, 2023 Dec;45(3):405-416.
    PMID: 38155382
    BACKGROUND: Myelodysplastic syndromes (MDS) are a group of clonal haematopoietic stem cell disorders characterised by ineffective haematopoiesis and cytopenia. Studies have reported differences in MDS between Asian and Western countries, but data from Taiwan are scarce.

    MATERIALS AND METHODS: In this study we analysed the clinical and pathological features of 32 Taiwanese MDS patients with del(5q) (ie, del(5q) alone [Group A, n = 11], del(5q) with one additional cytogenetic abnormality other than monosomy 7 or del(7q) [Group B, del(5q)+1; n = 6], and del(5q) with ≥2 additional cytogenetic abnormalities [Group C, n = 15]).

    RESULTS: Progression-free survival (PFS) and overall survival (OS) were more favourable for Group A than for Groups B (p < 0.05) and C (p ≤ 0.001). Multivariate analysis showed that age >70 years, thrombocytopenia, and karyotype other than del(5q) alone were poor prognostic factors. Among the patients that had World Health Organization (WHO)-defined MDS with isolated del(5q), one patient (9%) had a typical marrow morphology of 5q minus syndrome with erythroid hypoplasia and four patients (36%) had hypolobated megakaryocytes. In addition, PFS and OS were significantly more favorable for the patients with del(5q) alone than for those with del(5q)+1 (p < 0.05).

    CONCLUSION: The bone marrow morphology, clinical features, and prognosis of Taiwanese MDS patients with del(5q) were different from those associated with MDS with isolated del(5q) as defined in the current WHO classification. Researchers should compare different geographic regions and racial populations to determine whether geographic and racial differences exist with respect to MDS with del(5q).

  15. Tan GC, Cheong SK
    Malays J Pathol, 2023 Dec;45(3):315.
    PMID: 38155374
    No abstract available.
  16. Hoo R, Shelat VG
    Malays J Pathol, 2023 Aug;45(2):285-292.
    PMID: 37658538
    INTRODUCTION: Hepatocellular carcinoma is the most common primary liver malignancy, and sarcomatoid hepatocellular carcinoma is a rare malignancy containing both carcinomatous and sarcomatous components.

    CASE REPORT: We report a 64-year-old male patient treated with open right trisectionectomy for a 16cm right hemiliver tumour. The diagnosis of sarcomatoid hepatocellular carcinoma was confirmed on histology. Five months after hepatic resection, patient had symptoms suggestive of Horner's syndrome along with left sided shoulder pain, hand weakness, reduced power of the intrinsic hand muscles and reduced pain perception over the C8/T1 dermatome. Magnetic Resonance Imaging (MRI) showed a mass at the left lung apex/superior sulcus involving the left C8, T1 nerve roots, scalene muscles, and brachial plexus. The mass closely abutted the left first rib and partially encased the left subclavian artery. The patient was managed with palliative chemoradiotherapy for Pancoast syndrome.

    DISCUSSION: Hepatocellular carcinoma pulmonary metastasis causing Pancoast syndrome is a rare occurrence with only four prior reports, and to the best of our knowledge, pulmonary metastasis from sarcomatoid hepatocellular carcinoma causing Pancoast syndrome is unreported. In this report, we will discuss the clinicopathological characteristics of this case which may provide insight into diagnosis and management of other sarcomatoid hepatocellular carcinoma patients.

  17. Mohd Kasim NA, Mohd Nor NS, Wen MT, Syed Kamaruddin SKA, Sheikh Abdul Kadir SH
    Malays J Pathol, 2023 Aug;45(2):293-296.
    PMID: 37658539
    INTRODUCTION: A 1-year-old Malay girl presented with pallor, failure to thrive and hepatosplenomegaly. Her blood was sent for thalassaemia screening and it was incidentally found that her blood appeared lipaemic.

    CASE REPORT: Primary and secondary causes of hyperlipidaemia were investigated. Her blood was sent for fasting lipid profile, thyroid function test (TFT), fasting plasma glucose (FPG), liver function test (LFT), renal profile (RP) and HIV screening. Lipaemic interference was removed by high-speed centrifugation. She is a product of non-consanguineous marriage. She is staying together with her stepfather who is HIV positive. Her mother's infective status was negative with no dyslipidaemic features and a normal lipid profile. Lipid profile of her biological father was not known. No other lipid stigmata such as eruptive xanthoma or lipaemia retinalis was seen in the patient. Haemoglobin analysis showed Hb E-Beta thalassaemia major. Her triglycerides was 9.05 mmol/L with normal total cholesterol, 2.85 mmol/L and high-density lipoprotein cholesterol (HDL-c), 0.26 mmol/L. Calculated low-density lipoprotein cholesterol (LDL-c) was invalid as triglycerides was >4.5 mmol/L. TFT, RP, FPG, LFT were normal and HIV status was negative. She was transfused with 10 ml/kg packed cell and her blood post transfusion appeared non lipaemic.

    CONCLUSION: Primary hypertriglyceridaemia was excluded based on insignificant family history of dyslipidaemia. Secondary causes of hypertriglyceridaemia were ruled out based on unremarkable laboratory investigations. Thus, we conclude that this patient is having hypertriglyceridaemia thalassaemia syndrome (HTS) which is a rare disorder with unknown pathogenesis. Further research may be required to explore this unknown association.

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