Is Hereditary Neuropathy With Liability To Pressure Palsies HNPP hereditary?

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is a genetic disorder inherited in an autosomal dominant pattern, meaning a single copy of the altered gene is sufficient to cause the condition. Because it is hereditary, it is passed directly from parents to children, though de novo (spontaneous) mutations can occur in individuals with no prior family history.

Is Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) hereditary?

Yes, Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is a hereditary condition caused by a deletion of the PMP22 gene on chromosome 17. Because it follows an autosomal dominant inheritance pattern, each child of an affected parent has a 50% chance of inheriting the genetic mutation. While many cases are inherited from an affected parent, some individuals develop the condition due to a de novo mutation, meaning it appeared for the first time in their genetic makeup.

How is this condition diagnosed genetically?

Genetic testing is the gold standard for confirming a diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). Testing typically involves chromosomal microarray or MLPA (Multiplex Ligation-dependent Probe Amplification) to detect the characteristic 1.5 Mb deletion of the 17p12 region. Genetic counseling is highly recommended for families to discuss the following:

• Inheritance risk: Understanding the 50% recurrence risk for future pregnancies.


• Family screening: Identifying other at-risk family members who may be asymptomatic.


• Reproductive options: Discussing prenatal diagnosis or preimplantation genetic testing (PGT).


• Clinical variability: Understanding that family members with the same mutation may experience symptoms of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) with varying degrees of severity.

What is the role of genetic counseling?

Genetic counseling for Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) provides essential support for patients navigating life-long management. Currently, 89 members of the DiseaseMaps.org community living with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) have shared that understanding the genetic basis of their condition helped them better manage expectations and advocate for their health needs.

Next steps

• Consult with a board-certified clinical geneticist to confirm your diagnosis through molecular testing.


• Request a referral to a genetic counselor to discuss family planning and testing for relatives.


• Join the DiseaseMaps.org community to connect with others sharing their experiences with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific clinical situation.

References

• NIH Genetic and Rare Diseases Information Center (GARD): HNPP Overview.


• Orphanet: Hereditary neuropathy with liability to pressure palsies (ORPHA:647).


• OMIM (Online Mendelian Inheritance in Man): #162500 - Neuropathy, Hereditary, with Liability to Pressure Palsies.


• Neuropathy Commons (Harvard Medical School): Information on Peripheral Nerve Disorders.