Elizabeth Nadeau1, Michelle M Mezei2, Mark Cresswell3, Sida Zhao4, Taryn Bosdet5, Don D Sin6, Jordan A Guenette7, Isabelle Dupuis3, Emily Allin5, David C Clarke4, Andre Mattman8. 1. Patient Investigator, Canada. 2. Adult Metabolic Diseases Clinic, Vancouver General Hospital, Canada; Division of Neurology, Vancouver General Hospital, Canada. 3. Department of Radiology, St Paul's Hospital, Canada. 4. Department of Biomedical Physiology & Kinesiology, Canada; Simon Fraser University, Canada. 5. Adult Metabolic Diseases Clinic, Vancouver General Hospital, Canada. 6. Centre for Heart Lung Innovation, St Paul's Hospital, Canada. 7. Centre for Heart Lung Innovation, St Paul's Hospital, Canada; Department of Physical Therapy, Faculty of Medicine, The University of British Columbia, Canada. 8. Adult Metabolic Diseases Clinic, Vancouver General Hospital, Canada; Department of Pathology, Faculty of Medicine, The University of British Columbia, Canada. Electronic address: amattman@providencehealth.bc.ca.
Abstract
BACKGROUND: A 56-year-old female, diagnosed as a carrier of the mitochondrial DNA mutation (MTTK c.8344A > G) associated with the MERRF (myoclonic epilepsy with ragged red fibers) syndrome, presented with a relatively uncommon but well-known phenotypic manifestation: severe multiple symmetric lipomatosis (MSL). After surgical resection of three kilograms of upper mid-back lipomatous tissue, the patient experienced a significant decline in her functional capacity and quality of life, which ultimately resulted in her placement on long-term disability. METHODS: Dissatisfied with the available treatment options centered on additional resection surgeries, given the high probability of lipoma regrowth, the patient independently researched and applied alternative therapies that centred on a carbohydrate-restricted diet and a supervised exercise program. RESULTS: The cumulative effect of her lifestyle interventions resulted in the reversal of her MSL and her previously low quality of life. She met all her personal goals by the one-year mark, including reduced size of the residual post-surgical lipomas, markedly enhanced exercise tolerance, and return to work. She continues to maintain her interventions and to experience positive outcomes at the two-year mark. INTERPRETATION: This case report documents the timing and nature of lifestyle interventions in relation to the reversal in growth pattern of her previously expanding and debilitating lipomas. The profound nature of the apparent benefit on lipoma growth demonstrates the intervention's potential as a new feasible non-surgical therapy for mitochondrial-disease-associated MSL, and justifies its systematic study. We also describe how this case has inspired the care team to re-examine its approach to involved patients.
BACKGROUND: A 56-year-old female, diagnosed as a carrier of the mitochondrial DNA mutation (MTTK c.8344A > G) associated with the MERRF (myoclonic epilepsy with ragged red fibers) syndrome, presented with a relatively uncommon but well-known phenotypic manifestation: severe multiple symmetric lipomatosis (MSL). After surgical resection of three kilograms of upper mid-back lipomatous tissue, the patient experienced a significant decline in her functional capacity and quality of life, which ultimately resulted in her placement on long-term disability. METHODS: Dissatisfied with the available treatment options centered on additional resection surgeries, given the high probability of lipoma regrowth, the patient independently researched and applied alternative therapies that centred on a carbohydrate-restricted diet and a supervised exercise program. RESULTS: The cumulative effect of her lifestyle interventions resulted in the reversal of her MSL and her previously low quality of life. She met all her personal goals by the one-year mark, including reduced size of the residual post-surgical lipomas, markedly enhanced exercise tolerance, and return to work. She continues to maintain her interventions and to experience positive outcomes at the two-year mark. INTERPRETATION: This case report documents the timing and nature of lifestyle interventions in relation to the reversal in growth pattern of her previously expanding and debilitating lipomas. The profound nature of the apparent benefit on lipoma growth demonstrates the intervention's potential as a new feasible non-surgical therapy for mitochondrial-disease-associated MSL, and justifies its systematic study. We also describe how this case has inspired the care team to re-examine its approach to involved patients.
Authors: Andre Mattman; Elizabeth Nadeau; Michelle M Mezei; Mark Cresswell; Sida Zhao; Taryn Bosdet; Don D Sin; Jordan A Guenette; Isabelle Dupuis; Emily Allin; David C Clarke Journal: Orphanet J Rare Dis Date: 2022-01-10 Impact factor: 4.123