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Adipose Tissue_Appetite_and Obesity

SAT-687 - Recognizing an Important Clinical Association: Mitochondrial Disease and Lipomatosis

Saturday, June 13, 2026
9:30 AM - 4:30 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Yasmin K. Aly, MD: No financial relationships to disclose
Elif A. Oral, MD: No relevant disclosure to display
Background

Lipomatosis is a rare condition characterized by multiple benign, non-encapsulated lipomas with genetic or environmental etiologies. Recent studies have linked lipomatosis to mitochondrial DNA mutations, including variants in the MT-TK gene. The most common MT-TK mutation, m.8344A>G, has been associated with lipomatosis, particularly at high heteroplasmy levels. We aimed to summarize existing evidence on lipomatosis prevalence across MT-TK variants and identify gaps in knowledge, prompted by two related patients followed in our clinic.

Methods

We performed a preliminary review of 187 reported cases from 45 publications, plus two index cases, involving MT-TK variants with or without lipomatosis. Clinical data were unavailable or incomplete in 21 cases, and these were excluded from comparative analyses. Clinical features were compared using Fisher’s exact test. Logistic regression assessed whether heteroplasmy level or specific MT-TK variants predicted lipomatosis. The literature search will be expanded to include all reports from the first description of MT-TK–associated lipomatosis to the present.

Results

Data from 93 patients without lipomatosis (M/F 45/48; mean age 33 ± 17 years) were compared with 73 patients with lipomatosis (M/F 24/49; mean age 48 ± 15 years). Patients without lipomatosis more frequently exhibited myopathy, fatigue, exercise intolerance, ophthalmologic abnormalities, sensorineural hearing loss, psychiatric manifestations, and gastrointestinal symptoms (all P < 0.05). In contrast, patients with lipomatosis more often had hypertension (16.7% vs 1.1%, P = 0.0004) and dyslipidemia (12.5% vs 1.1%, P = 0.0027), suggesting an association with metabolic syndrome. Diabetes, cardiovascular disease, and kidney disease prevalence did not differ. The m.8344A>G variant was the most frequently reported MT-TK mutation. Neither specific MT-TK variants nor reported heteroplasmy levels predicted lipomatosis in this analysis. Detailed body composition, liver imaging, and adipose tissue data were largely unavailable.

Conclusion

Mitochondrial DNA sequencing should be considered in patients with lipomatosis and metabolic syndrome features such as hypertension or dyslipidemia. Recognizing these associations may facilitate timely molecular diagnosis and facilitate appropriate referrals. Expanded systematic review and future studies incorporating adipose tissue characterization and tissue-specific heteroplasmy analyses are needed to clarify underlying mechanisms.

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