RESUMEN
Background: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and rhabdomyolysis. A review of 350 patients found less than one third presented with metabolic crises. Our objective is to describe an adult with weakness after carbohydrate restriction that developed a pulmonary embolism and ketoacidosis, and was diagnosed with MADD type III. Case Report: A 27-year-old woman with obesity presented to the hospital with fatigue and weakness worsening over months causing falls and decreased intake. She presented earlier to clinic with milder symptoms starting months after initiating a low carbohydrate diet. Testing revealed mild hypothyroidism and she started Levothyroxine for presumed hypothyroid myopathy but progressed. Muscle biopsy suggested a lipid storage myopathy. Genetic testing revealed a mutation in the ETFDH (electron transfer flavoprotein dehydrogenase) gene likely pathogenic for MADD; however, before this was available she developed severe ketoacidosis and rhabdomyolysis. She empirically started a low-fat diet, carnitine, cyanocobalamin, and coenzyme Q10 supplementation with improvement. Over months her energy and strength normalized. Discussion: MADD may cause ketoacidosis and rhabdomyolysis but this is rare in adults. Diagnosis requires clinical suspicion followed by biochemical and genetic testing. It should be considered when patients present with weakness or fasting intolerance. Treatment includes high carbohydrate, low-fat diets, supplementation, and avoiding fasting. Conclusion: There should be greater awareness to consider MADD in adults presenting with neuromuscular symptoms, if untreated it may cause severe metabolic derangements.
RESUMEN
OBJECTIVE: Hip fracture is a common and morbid condition. Prior studies have shown that the majority of patients with fragility fracture are not treated for underlying osteoporosis. Our hospitalist-led co-management service for patients with acute hip fracture had no system for evaluating and treating osteoporosis in this cohort. Our objective was to implement a fracture liaison service (FLS) to assist patients with acute hip fracture and assess subsequent impact on diagnosis and treatment of osteoporosis. METHODS: We conducted a pre-post study design at our tertiary academic center, including patients >50 years old hospitalized with acute hip fracture. We implemented a FLS, whereby all patients received endocrinology consultation. Outcome measures included the proportion of patients evaluated for osteoporosis by time of hospital discharge, comparing pre-implementation (12 months) and post-implementation (9 months) cohorts. We also measured the proportions of patients evaluated for and offered treatment for osteoporosis within 3 months of discharge for patients with post-discharge encounters visible in the medical record. RESULTS: We identified 167 patients before and 124 after FLS implementation. In univariate analysis, the proportion of patients evaluated for osteoporosis before discharge increased from 0.6% to 72.6% (p < 0.001) pre- vs. post-implementation. The proportion of patients offered osteoporosis treatment within 3 months after discharge increased from 25.3% to 46.3% (p = 0.01). In multivariate analysis, post-implementation patients had higher odds of osteoporosis evaluation while hospitalized (OR = 470.4, p < 0.001) and higher odds of being offered osteoporosis treatment within 3 months (OR = 2.8, p = 0.008). CONCLUSIONS: Establishment of an FLS partnered with a hospitalist-led co-management service for patients with hip fracture was associated with significant improvements in the proportions of patients evaluated and offered treatment for osteoporosis. Wider adoption of this model has the potential to improve care for patients with hip fracture by narrowing the osteoporosis treatment gap.