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.

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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
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article

Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis

Akshay Sharma, Pardeep Masuta, Imran Yousaf, Deepak Gupta et al.
Cureus
Neurofibromatosis and Schwannoma Cases
article

Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis

Akshay Sharma, Pardeep Masuta, Imran Yousaf, Deepak Gupta, Yasmin Bilal
article en

Abstract

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.

CureusVol. 17(12)
Anne Arundel Medical Center (US), Salisbury University (US)
Openalex Percentile: Top 46%
Neurofibromatosis and Schwannoma Cases
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