Not Your Typical Case of DKA: The Intricacies of DKA Management in a Patient with MCAD Deficiency
Presentation Number: SAT-765
Date of Presentation: June 15th, 2013
Urseline Altovise' Hawkins*1, Jose S Subauste2 and Hans-Georg O. Bock1
1Univ of MS Med Ctr, Jackson, MS, 2G.V. (Sonny) Montgomery VA Med Ctr, Jackson, MS
Introduction: Managing DKA in a patient with both medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, and DM I can be challenging, and varies from the usual management of DKA, in certain aspects. Not much is available in the literature on this topic.
Clinical Case: A 21 year old woman with classic severe MCAD deficiency [a 985A>G homozygote] and DM I, presented to the Emergency Department with acute onset of lethargy, nausea, vomiting, diminished oral intake, and RUQ abdominal pain. Patient denied fever, diarrhea, symptoms of both UTI, and URI. Patient reported compliance with her insulin regimen of Lantus 20 units BID, and regular insulin for prandial coverage. She admitted to poor compliance with levocarnitine supplementation. On physical exam, patient was noted to have delayed thought process, but answered all questions appropriately. She had several findings consistent with dehydration, and was found to have RUQ tenderness on exam, which made assessment of hepatomegaly difficult. Initial lab findings were consistent with DKA, including elevated glucose (622, n:74-106 mg/dL), low bicarbonate (18, n:22-29 mmol/L), decreased venous pH (7.05, n:7.32-7.42), and mildly elevated urine ketones (20, n:negative mg/dL). Patient’s WBC count was also elevated, with rightward shift of neutrophils. Abdominal ultrasound prior to this admission was positive for hepatomegaly. As the fasting state must be avoided in MCAD deficiency, we initiated a diet high in carbohydrates, and proteins, but low in lipids. Instead of normal saline, D10 ½ NS was selected as the initial IV fluid. Her insulin infusion was titrated carefully, and her glucoses monitored closely to avoid hypoglycemia. The levocarnitine was switched from oral to IV formulation during the acute phase of her illness. With the above measures, hypoglycemia was avoided, and the DKA gradually resolved, with resolution of the ketosis and acidosis. Patient was slowly transitioned to her home insulin regimen, and was discharged home once she approached her baseline.
Conclusion: Although MCAD deficiency is rare, given the incidence of DM I, this coincidental combination does occur. During a catabolic episode due, for instance, to fasting, acute illness or trauma, there normally is increased utilization of free fatty acids from body fat stores, but the limited metabolism of fatty acids in MCAD deficiency may lead rapidly to acute metabolic decompensation with hepatomegaly, abdominal pain, nausea, emesis, lethargy progressing to coma, seizures and death with acute lab results documenting hypoketotic hypoglycemia, elevated anion gap, hyperammonemia, elevated liver enzymes and hyperuricemia. Accordingly, the presentation and management of such patients is altered. We present our approach for management of brittle DKA, in a patient with classic severe MCAD deficiency, as literature regarding this area is scarce.
Nothing to Disclose: UAH, JSS, HGOB