Objective:

The objective of this study is to characterize the diagnostic pathway of patients found to have HNPP and to assess patterns in clinical care prior to diagnosis.

Background:

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is a hereditary peripheral neuropathy characterized by recurrent mononeuropathies at compressible sites. The clinical presentation varies and can mimic other inherited or immune-mediated conditions. Patients can undergo numerous evaluations and interventions before receiving an accurate diagnosis. This study aims to investigate the diagnostic paths of individuals with HNPP.

Design/Methods:

This is a retrospective chart review of patients with genetically confirmed HNPP seen at our center between January 1, 2015, and June 1, 2025.

Results:

There were 21 subjects included in analysis. Most were female (71%) and the average age at diagnosis was 34. Over half reported symptom onset before age 30. Hand symptoms were found amongst 20 subjects, and foot symptoms were common. Patients without family history of neuropathy experienced longer diagnostic delays, more physician visits, and more referrals on average. The time to diagnosis was less than 2 years in over half of patients; 8 patients were diagnosed within 1 year of symptom onset. Black and other-identifying patients saw more providers and had more referrals on average. Misdiagnoses included CIDP, GBS, and typical carpal tunnel syndrome. Invasive diagnostic procedures (e.g. lumbar puncture) or invasive treatments (e.g. surgeries) were employed in misdiagnosed patients. On average, patients underwent 1.84 EMGs and saw 3.2 medical providers before receiving a diagnosis.

Conclusions:

These findings demonstrate highly variable diagnostic pathways of HNPP patients. While some patients were rapidly diagnosed with genetic testing, others underwent extensive, sometimes invasive evaluation due to misdiagnosis. Family history of neuropathy made for more efficient diagnostic trajectory overall. This underscores the need for increased awareness of HNPP among clinicians to reduce diagnostic delays and avoid inappropriate treatments.