Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis
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.
Authors
- Akshay Sharma (ORCID: https://orcid.org/0000-0003-3281-2081)
- Pardeep Masuta (ORCID: https://orcid.org/0000-0003-0023-4299)
- Imran Yousaf (ORCID: https://orcid.org/0000-0003-1968-293X)
- Deepak Gupta (ORCID: https://orcid.org/0000-0001-7698-5668)
- Yasmin Bilal
Institutions
- Anne Arundel Medical Center (US)
- Salisbury University (US)
Publication Details
- Journal
- Cureus
- Published
- 2025-12-08
- DOI
- https://doi.org/10.7759/cureus.98767
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00