P.024 A multi-faceted lifestyle intervention for mitochondrial A8344G associated multiple symmetric lipomatosis (MSL): a successful patient initiated novel therapy

Background: A female carrying the common MERRF mitochondrial DNA A8344G mutation had multiple symmetric lipomatosis (MSL) as the primary disease manifestation. Methods: Case report of a mitochondrial disease patient treating her severe lipomas by lifestyle modifications including a modified ketogenic diet. Results: The patient required lipoma reduction surgery after a rapid rate of lipoma progression. Following a difficult recovery, the patient independently researched an alternative therapy for her disease. The intervention was multi-faceted (dietary, physical activity, meditation) and progressive over two years. A carbohydrate reduced (5–10% of calories) modified ketogenic diet was a major part of the treatment owing to its incidental success in MSL management in her brother for management of glioblastoma multiforme. The outcome of her intervention was positive: weight loss, lipoma size reduction, improvement in physical activity/strength, laboratory markers of insulin resistance, and sense of well including a return to full time work. Conclusions: A potential non-surgical therapy for mitochondrial disease associated MSL appears feasible over the short term. The success of the lifestyle intervention in MSL therapy is unprecedented and, importantly, was fully patient initiated. This novel therapy provides potential insight into the mechanism of MSL exacerbation: suggesting insulin resistance or other lifestyle modifiable factors as mediators of disease progression.

Multiple Symmetric Lipomatosis: A Cross-Sectional Study to Investigate Clinical Features and Patients’ Quality of Life

Within the subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) (syn.: Launois Bensaude Syndrome, Morbus Madelung, benign symmetric lipomatosis) is rare. The pathogenesis of MSL remains unclear. We investigated the largest German cohort of MSL patients to obtain anamnestic data and quality of life with a standard questionnaire. Twenty-nine patients with confirmed MSL were included and filled in a questionnaire designed for this study. The questionnaire assessed common anamnestic factors, such as quality of life (EQ-5D-3L) and subjective treatment goals and success (“Patient-Benefit-Index-Lymphedema”, PBI-L). The gender distribution of the patients involved in the study was m/f: 1/4 (male: n = 6 (21%); female n = 23 (79%)). While the exact pathophysiology of MSL remains unclear, a subset of patients’ positive family history suggests a strong genetic factor, sometimes compatible with autosomal dominant inheritance. Patients with MSL showed lower health states (EQ VAS Score: m = 51, sd = 24, range = 0–90) than the German norm population (m = 77). Around two thirds (68%) of patients reported relevant benefits of therapy (liposuction/lipectomy). In our cohort about one third of the patients reported a positive family history for MSL-like features. Additionally, at least in some patients, a strong genetic factor, compatible with autosomal dominant inheritance, seems a possible major driver of MSL development. Alcohol consumption and MSL development has to be regarded as a controversial issue. Patients suffering from MSL have a clear decrease in quality of life and a marked wish for treatment.

Recurrent Multiple Symmetric Lipomatosis Affecting the Upper & Lower Limbs: A Case Report

Madelung disease is a rare, metabolic, malignancy-associated and disfiguring condition of unknown etiology, characterized by potentially debilitating neurological, cardiopulmonary, gastric, musculoskeletal and psycho-social complications. Also known as multiple symmetric lipomatosis (MSL), Benign Lipomatosis (BSL), and Launois-Bensaude syndrome, MSL is characterized by the symmetrical growth of subcutaneous non-encapsulated fat deposits, usually around the neck, but in some cases also around shoulders, the upper trunk, chest and limbs, and hip girdle. These abnormal fat deposits may rapidly grow over a few months or slowly enlarge over several years. Expanding fatty deformations may be disabling, have disfiguring aesthetic consequences, and infiltrate or compress adjacent vital structures. This case illustrates that painful, massive growths may also occur around the knees, re-grow post excision, and present with compressive neurological symptoms necessitating further surgical interventions.

The Oleaginous Conglomerate- Multiple Symmetric Lipomatosis

Multiple symmetric lipomatosis (MSL) is an exceptional disorder of adipose tissue metabolism and lipid storage. The condition was initially scripted by Sir Benjamin Brodie in 1846 and is additionally designated as Made lung’s disease, Launois-Bensaude syndrome or benign symmetric lipomatosis (1). Characteristically, multiple symmetric lipomatosis displays multiple foci of accumulated, non-encapsulated, mature adipose tissue with predominant infiltration within subcutaneous tissue of cephalic, cervical and upper thoracic region. Multiple, non-encapsulated, symmetrically distributed lipomas which spare distal extremities are enunciated in multiple symmetric lipomatosis (1,2). The condition can be misinterpreted as simple obesity on account of identical clinical features and symptoms. Therefore, antecedent evaluation of pertinent manifestations and differentiation of dual entities is necessitated. The disease is presumed to be a condition diverse from accumulation of brown adipose tissue. Histological structure of constituent adipose tissue cells is dystrophic with characteristics akin to lipoma and liposarcoma. The condition may be associated with significant morbidity, metabolic disturbances, neuropathy, malignant metamorphosis and sudden death (1,2).