Mitochondrial disorder mimicking rheumatoid disease

Area of Science:

• Genetics and Molecular Biology
• Rheumatology
• Endocrinology

Background:

• Mitochondrial disorders (MIDs) present with diverse symptoms, but polyarthralgia and cutaneous lesions are infrequently recognized.
• These symptoms may be indicative of a broader multisystem mitochondrial disorder.

Observation:

• A 27-year-old female presented with a history of preterm birth, myopathy, and polyarthralgia since infancy.
• She also exhibited multiple endocrinopathies, cardiac conduction defects, nephrolithiasis, pancreatitis, anemia, hyperlipidemia, and dysmorphic features.
• Muscle biopsy confirmed a mitochondrial defect, and family history suggested a genetic component.

Findings:

• The patient's symptoms, including seronegative polyarthralgia and cutaneous lesions mimicking lupus, were attributed to a multisystem MID.
• Mitochondrial metabolic defects can precipitate secondary immune responses.
• Key features of infantile-onset MID include myopathy, endocrine issues, cardiac defects, dysmorphism, hyperlipidemia, anemia, and nephrolithiasis.

Implications:

• Polyarthralgia and unexplained skin conditions should prompt consideration of MIDs.
• Early recognition of these atypical symptoms can lead to timely diagnosis and management of mitochondrial multiorgan disorder syndrome.
• Understanding the diverse clinical spectrum of MIDs is essential for comprehensive patient care.