Multisystemic, Possibly Familial Sarcoidosis Ameliorated by an mTOR Inhibitor.

BACKGROUND

Sarcoidosis is an inflammatory, multisystemic, potentially life-threatening disease with a precise etiology that remains largely unknown. It is characterized by granuloma formation in various organs that can lead to permanent organ scarring and failure. Currently there is no curative treatment. Traditional drug interventions target reduction of inflammation and symptom control and have not shown definitive proof of a survival benefit.

CASE SUMMARY: We present the cases of a mother and son treated for chronic aggressive multiorgan sarcoidosis with sirolimus, a mammalian target of rapamycin (mTOR) inhibitor. Both patients experienced a marked reversal of inflammation in their respective affected organs coupled with profound symptom relief.

CONCLUSIONS

Inhibition of mTOR may be an effective, safe treatment option for patients with conventional-drug-resistant forms of systemic sarcoidosis.