ICD10 code of Peutz-Jeghers syndrome and ICD9 code

Peutz-Jeghers syndrome (PJS) is classified under the ICD-10 code Q85.8 (other phakomatoses, not elsewhere classified) and the ICD-9 code 759.6 (other hamartomatous syndromes). These diagnostic codes are essential for medical billing, clinical documentation, and accessing specialized care for patients navigating this rare genetic condition.

What is Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is a rare, autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and distinct mucocutaneous pigmentation. Individuals living with Peutz-Jeghers syndrome often experience symptoms such as abdominal pain, bowel obstruction, or gastrointestinal bleeding due to these polyps. Because Peutz-Jeghers syndrome significantly increases the lifetime risk of developing various cancers—including colorectal, breast, pancreatic, and ovarian cancers—rigorous surveillance is a clinical necessity for all diagnosed patients.

How is Peutz-Jeghers syndrome diagnosed?

The diagnosis of Peutz-Jeghers syndrome is typically established through a combination of clinical criteria and molecular genetic testing. Physicians often suspect Peutz-Jeghers syndrome when a patient presents with multiple gastrointestinal hamartomatous polyps or characteristic dark blue-to-brown macules on the lips, buccal mucosa, face, and digits. Genetic counseling is a critical component of the diagnostic journey, as the condition is caused by a germline mutation in the STK11 (also known as LKB1) gene, which is located on chromosome 19p13.3.

What should I know about managing Peutz-Jeghers syndrome?

Managing Peutz-Jeghers syndrome requires a multidisciplinary approach, as the condition affects multiple organ systems. At DiseaseMaps.org, 167 people with Peutz-Jeghers syndrome have joined the community, highlighting the importance of shared experiences in navigating a complex surveillance schedule. Clinical management generally focuses on the early detection of polyps and malignancy through regular screenings.

• Endoscopic surveillance: Periodic colonoscopy, upper endoscopy, and video capsule endoscopy to monitor for and remove polyps.


• Cancer screening: Regular breast MRI or mammography, pancreatic imaging (EUS or MRI/MRCP), and gynecological screenings.


• Genetic counseling: Essential for family planning and understanding the 50% risk of inheritance for offspring of an affected individual.


• Psychosocial support: Addressing the anxiety associated with chronic surveillance and the physical symptoms of Peutz-Jeghers syndrome.

Is Peutz-Jeghers syndrome hereditary?

Yes, Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern. This means that an individual affected by Peutz-Jeghers syndrome has a 50% chance of passing the STK11 gene mutation to each of their children. However, it is important to note that approximately 25% of cases arise from a *de novo* (spontaneous) mutation in the patient, meaning there is no family history of Peutz-Jeghers syndrome in the parents.

Next steps

• Consult with a clinical geneticist to discuss genetic testing for the STK11 gene.


• Establish a long-term relationship with a gastroenterologist experienced in managing polyposis syndromes.


• Join the community at DiseaseMaps.org to connect with 167 others living with Peutz-Jeghers syndrome for peer support.


• Maintain a comprehensive personal health record of all endoscopic findings and imaging results.

Medical disclaimer: This content is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Peutz-Jeghers syndrome.


• Orphanet: Peutz-Jeghers syndrome (ORPHA:713).


• OMIM (Online Mendelian Inheritance in Man): Entry #175200 (Peutz-Jeghers Syndrome).


• National Cancer Institute (NCI): Genetics of Colorectal Cancer (PDQ®)–Health Professional Version.