Abstract
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 1,300 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. Eighty six percent 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 clinicians in patients with mitochondrial diseases where the clinical picture could be dominated by a severe multi-systemic involvement. Our data 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 mitochondrial disorders, even in patients with an apparently isolated MSL.
Highlights
Multiple systemic lipomatosis (MSL) is a rare disorder involving adipose tissue and characterized, clinically, by the development of non-encapsulated lipomas usually distributed in the cervical– cranial–thoracic region [1,2,3]
We reviewed data of 1,300 patients reported in the database of the Nation-wide Italian Collaborative Network of Mitochondrial Diseases searching for the presence of lipomatosis as clinical feature
The majority of subjects with multiple systemic lipomatosis (MSL) showed a variety of signs and symptoms but only in four subjects (18%) it was an isolated manifestation in a mean follow-up period of about 15 years
Summary
Multiple systemic lipomatosis (MSL) is a rare disorder involving adipose tissue and characterized, clinically, by the development of non-encapsulated lipomas usually distributed in the cervical– cranial–thoracic region [1,2,3]. MSL was differently named referring to scientists who described some peculiar clinical features of the disease as Brodie syndrome or Madelung‘s disease or Launois–Bensaude disease [1,2,3]. Lipomatous masses often occur in the third/fourth decade of life. MSL is largely prevalent among males and it has been correlated with high alcohol intake [4, 5]. Lipomas ‘distribution is prevalent along the midline, sparing distal portion of the limbs. Respiratory airways obstruction by cervical lipomatous masses is a common serious complication [4, 6]
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