Can Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) cause pain when pressing the side of my ribs or specific locations?

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Pain with Rib Pressure

Yes, HNPP can cause pain when pressing on the side of your ribs or other specific locations, as pain is now recognized as a common symptom in HNPP despite being traditionally described as a painless condition. 1

Understanding HNPP and Pain Symptoms

• HNPP is an autosomal dominant disorder characterized by recurrent focal neuropathies typically occurring at sites of nerve entrapment or compression 2
• While traditionally described as painless, recent evidence shows that pain is frequently reported in HNPP patients 1
• Pain can be an early feature of HNPP and should not lead clinicians away from considering this diagnosis 1
• Patients with peripheral neuropathy often experience burning pain, "electrical shock" sensations, stabbing pains, and uncomfortable tingling 3
• Pressure-induced pain in specific locations (like ribs) can occur due to the heightened sensitivity of nerves to compression in HNPP 2

Clinical Presentation of HNPP

• The most common presentation is multiple mononeuropathy (67% of cases), followed by isolated mononeuropathy (18%) 2
• Pain was reported as the initial complaint in 15% of patients and was present in additional patients during the course of the disease 2
• HNPP can present with unusual phenotypes, including multiple compression neuropathies in different nerves simultaneously 4
• Symptoms are typically precipitated by minor trauma or compression of nerves 5
• The clinical presentation is highly variable, which contributes to HNPP being underdiagnosed 1

Diagnostic Considerations

• Electrodiagnostic testing is essential for diagnosis, showing a sensorimotor neuropathy with focal conduction slowing at specific sites 2
• Genetic testing confirms the diagnosis, with 90% of cases showing a 1.5-Mb deletion of chromosome 17p11.2 including the PMP22 gene 5
• Family history should be carefully reviewed, although it may be absent in up to 41% of cases 2
• When evaluating neuropathic pain, validated scales can assess pain characteristics, including visual analog scales and numerical rating scales 3

Management of Pain in HNPP

• First-line therapies for neuropathic pain include tricyclic antidepressants, serotonin and norepinephrine reuptake inhibitors (SNRIs), and anticonvulsants like pregabalin and gabapentin 3, 6
• Duloxetine is specifically recommended for neuropathic pain, numbness, and tingling 3
• Avoiding situations that cause nerve compression is crucial for preventing symptom exacerbation 5
• Physical activity is recommended as a non-pharmacological approach, though activities requiring extreme positions (like hyperextension) should be avoided 3, 4

Important Considerations

• HNPP can present in a fulminant manner affecting multiple limbs simultaneously and should be included in the differential diagnosis of acute multiple mononeuropathies 7
• Pain in HNPP is often underestimated or overlooked, leading to diagnostic delays 1
• Patients are expected to make a full recovery after each episode of nerve palsy, though recurrent episodes can occur 5
• Symptoms typically begin distally but can affect any nerve subject to compression, including intercostal nerves that run along the ribs 3

When to Seek Medical Evaluation

• If you experience persistent or recurrent pain with pressure on specific locations, especially if accompanied by weakness, numbness, or tingling 2
• If you have a family history of similar symptoms or diagnosed peripheral neuropathy 5
• If symptoms interfere with daily activities or sleep 3
• If you experience sudden onset of weakness in any limb following minor trauma or compression 1

In conclusion, while HNPP was historically described as painless, current evidence clearly shows that pain is a common feature of this condition, including pain that can be provoked by pressure on specific areas like the ribs. If you're experiencing these symptoms, genetic testing and electrodiagnostic studies are important for confirming the diagnosis.