We report the first known case of
PAMI syndrome associated with
pulmonary arterial hypertension (PAH) with a positive response to
cyclophosphamide and pulmonary
vasodilators. The patient's history began at 7 months with severe
pancytopenia and
fever. As time progressed, migrating
arthritis, hepatosplenomegaly, and a growth deficit manifested without a plausible explanation. At the age of 17, worsening
dyspnea led to a diagnosis of severe pre-capillary
pulmonary hypertension and, after a multidisciplinary evaluation, a dual
therapy with both vasoactive and
immunosuppressive agents led to rapid clinical improvement. After a decade of stability, stopping
sildenafil caused deterioration, reversed upon reintroduction. Thirty years after the onset of signs and symptoms, a genetic test identified the underlying condition known as
PAMI syndrome. As
PAMI syndrome involves intense systemic
inflammation similar to PAH related to
systemic lupus erythematosus (SLE), parameters and functional autonomy appropriately responded to early immunosuppressive and vasoactive
therapy.
PAMI syndrome, a rare autoinflammatory disease, is linked to precapillary
pulmonary hypertension but the exact cause and optimal treatment approach are not fully understood, requiring further research for clarification and improved treatment options.