Original Research ARTICLE
Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients
- 1Università degli Studi di Messina, Italy
- 2Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, United States
- 3Istituto Neurologico Carlo Besta (IRCCS), Italy
- 4Università Cattolica del Sacro Cuore, Italy
- 5Department of Neurology, IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Italy
- 6IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital (IRCCS), Italy
- 7University of Turin, Italy
- 8University of Pisa, Italy
- 9Asst degli Spedali Civili di Brescia, Italy
- 10University of Padova, Italy
- 11University Hospital of Padua, Italy
- 12MRC Mitochondrial Biology Unit, University of Cambridge, United Kingdom
Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most frequent mutation associated with MERRF. Up to date, no systematic studies have been developed in order to assess the incidence of lipomas in large cohorts of mitochondrial patients. The aim of this study is to analyze the incidence and characteristics of lipomas among an Italian cohort of patients with mitochondrial diseases.
A retrospective, database-based study (Nation-wide Italian Collaborative Network of Mitochondrial Diseases) of patients with lipomas was performed.
A total of 22 (1.7% ) patients with lipomas have been identified among the 1300 mitochondrial patients, enrolled in the Italian database. In about 18% multiple systemic lipomatosis (MSL) was the only clinical manifestation; 54% of patients showed a classical MERRF syndrome. Myopathy, alone or in association with other symptoms, was found in 27% of patients. Lactate was elevated in all the 12 patients in which was measured. Muscle biopsy was available in 18/22 patients: in all of them mitochondrial abnormalities were present. 86% had mutations in mtDNA coding for tRNA lysine. In most of patients, lipomas were localized along the cervical-cranial-thoracic region. In 68% of the patients were distributed symmetrically. Only two patients had lipomas in a single anatomical site (1 in right arm and 1 in gluteus maximum).
MSL is often overlooked by clinician in patients with mitochondrial diseases, in which the clinical picture is often dominated by severe multi-systemic involvement. Our data have confirmed that MSL is a rare sign of mitochondrial disease with a strong association between multiple lipomas and lysine tRNA mutations. MSL could be considered, even if rare, a red flag for a mitochondrial disorder even in patients with an isolated MSL.
Keywords: multiple simmetric lipomatosis, mitochondrial disorders, MERRF, Madelung's disease, Brown Fat
Received: 10 Jan 2019;
Accepted: 07 Feb 2019.
Edited by:Margherita Milone, Mayo Clinic, United States
Reviewed by:Lee-Jun Wong, Baylor College of Medicine, United States
Filippo M. Santorelli, Fondazione Stella Maris (IRCCS), Italy
Copyright: © 2019 Musumeci, Barca, Lamperti, Servidei, Pietro, Moggio, Mongini, Siciliano, Filosto, Pegoraro, Primiano, Ronchi, Vercelli, Orsucci, Bello, Zeviani, Mancuso and Toscano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Prof. Olimpia Musumeci, Università degli Studi di Messina, Messina, Italy, email@example.com