[Sarcoidosis in monozygotic twins]

Area of Science:

• Immunology
• Genetics
• Pulmonology

Background:

• Sarcoidosis is an inflammatory disease of unknown etiology.
• Monozygotic twins provide a unique model to study genetic and environmental factors in disease.

Observation:

• Simultaneous acute sarcoidosis onset in identical twins with unusual, multi-organ manifestations.
• Both twins presented with pulmonary involvement and hypercalcemia with compensated renal failure.
• One twin exhibited granulomatous conjunctivitis and widespread lymphadenopathy, while both had white matter lesions indicative of neurosarcoidosis.

Findings:

• Prednisolone treatment improved pulmonary and renal function, but symptoms recurred upon dose reduction.
• Neurosarcoidosis manifested clinically in only one twin despite MRI evidence in both.
• Disease presentation and progression showed marked similarities between the identical twins.

Implications:

• Highlights the potential for acute episodes even in chronic sarcoidosis, involving multiple organs.
• Suggests a significant genetic predisposition in sarcoidosis pathogenesis, as evidenced by the affected twins.
• Underscores the importance of considering genetic factors in the complex etiology of sarcoidosis.