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

TL;DR

A 66-year-old woman with neurofibromatosis Type 1 and sarcoidosis developed pulmonary hypertension and right heart failure, highlighting the complexity of diagnosing and managing overlapping rare diseases.

Contribution

This case highlights the diagnostic and therapeutic challenges of pulmonary hypertension in the context of overlapping rare diseases, neurofibromatosis Type 1 and sarcoidosis.

Findings

The patient presented with pulmonary hypertension and right heart failure.

The case illustrates the complexity of managing PH in the context of multiple overlapping rare diseases.

Diagnostic challenges were emphasized due to the multifactorial nature of the condition.

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.

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