Dr Angela Au1, Dr Sandy Wang1, Dr Amir Bazlee2, Professor Charles Chan2, Dr Michael Tchan3, Dr Shaundeep Sen1,4
1Department of Renal Medicine, Concord Repatriation General Hospital , Sydney , Australia, 2Department of Anatomical Pathology, Concord Repatriation General Hospital, Sydney , Australia , 3Department of Genetic Medicine, Westmead Hospital , Sydney, Australia , 4Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
Biography:
Angela Au is a second year Renal Advanced Trainee currently working at Royal Prince Alfred Hospital network in Sydney, NSW. She graduated from University of Newcastle in 2019 and is currently studying a Masters of Medicine at the University of Sydney.
Background:
Very long chain acetyl-CoA dehydrogenase (VLCAD) deficiency is a rare, autosomal recessive fatty acid oxidation disorder. It impairs the breakdown of very long chain fatty acids into acetyl-CoA, especially during fasting or illness, leading to energy crises with hypoglycaemia, hyperammonemia, acidosis, and rhabdomyolysis.
Case:
A 27-year-old female with VLCAD deficiency presented to Hospital with abdominal pain and vomiting, on a background of decreased caloric intake for several weeks to achieve weight loss. On admission, she had oliguric acute kidney injury (Creatinine 230 umol/L, eGFR 24 ml/min) and a creatine kinase (CK) of 79,159 U/L. She has had 15 episodes of rhabdomyolysis since diagnosis 10 years prior. Her usual management included a high-calorie, carbohydrate rich diet which she could not maintain.
With advice from the patient's usual metabolic physician, initial treatment included IV 10% dextrose at 150 ml/h and IV 0.9% normal saline at 100 ml/h. Despite this, her creatinine rose to 907 umol/L (eGFR 5ml/min) by day 4, and she developed gross anarsarca. Contrast-enhanced CT showed bilateral renal cortical hypoenhancement; renal biopsy confirmed acute tubular damage with myoglobinuria. A vascath was inserted and haemodialysis commenced. She received intermittent IV dextrose and gradual re-introduction of oral intake to a 2600 kcal/day target.
At the time of discharge (day 11), her creatinine was 738 umol/L (eGFR 6ml/minute), still requiring haemodialysis. One month later, dialysis was ceased with creatinine at 350 umol/L. By two months, renal function normalised (creatinine 73 umol/L, eGFR 90ml/min).
Conclusion:
Patients with fatty acid oxidation disorder are vulnerable to metabolic crises during illness. This highlights the importance of high suspicion for rhabdomyolysis-induced AKI, early glucose and nutritional support and robust sick day plans.