This case report highlights the diagnostic and therapeutic challenges of managing multifactorial pulmonary hypertension in a patient with overlapping rare diseases (neurofibromatosis Type 1 and sarcoidosis).
Highlights diagnostic challenges of multifactorial PH in rare overlaps; hypothesis-generating for targeted management.
We present a case of pulmonary hypertension (PH) and right heart failure in a 66-year-old female patient with longstanding neurofibromatosis Type I (NF1) since 1973 and sarcoidosis since 2009. She had a history of breast cancer 30 years ago, which was treated with left mastectomy followed by chemotherapy, and she has remained in remission thereafter. We detail her clinical presentation, diagnostic evaluation, and therapeutic course, highlighting the diagnostic challenges posed by multifactorial PH and the implications for targeted management.
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Sharma et al. (2025) studied this question.
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