A code for an autism-linked syndrome has now been established and entered into the U.S. diagnostic manual that catalogs health conditions. According to a recent report in Market Watch, the code represents a syndrome resulting from mutations in a gene called PTEN called hamartoma tumor syndrome (PHTS).
With this new code scientists can now identify patients with PHTS and, if eligible, enter these patients into clinical trials. The tenth revision of the Clinical Modification is effective as of October 1st.
Dr. Charis Eng, Genomic Institute chair, believes that published numbers of one out of every 200,000 people with the syndrome are underestimated. Eng points out that many clinicians have not been made aware of the disease. Another factor is that PHTS has many symptoms that overlap with other common conditions.
About Symptoms
Patients with PHTS are recognizable due to their enlarged heads (macrocephaly). Approximately seventeen percent of young children who have been diagnosed with autism and have macrocephaly also have PTEN mutations.
These children experience developmental delay, gastrointestinal polyposis, autism, hamartomas (benign tumors), vascular anomalies, and an increased risk of various cancers including thyroid, gland, uterus, and breast cancers to name a few.
Until now patients had been diagnosed with groups of unrelated disorders such as Proteus, Cowden, and Bannayan-Riley-Ruvalcaba. These disorders were all classified under ICD-10-CM and assigned the diagnostic code Q85.8.
Dr. Eng applied for the new code, Q85.81, in September 2021. The code only applies to carriers of germline mutations which are the only mutations passed to offspring. It is suspected of destroying one copy of the PTEN gene.
The approach is the result of improvements in genetic testing whereby people are diagnosed based on underlying genetics instead of clinical signs. As an example, tuberous sclerosis, an autism-linked condition, was previously linked to the same code as PHTS. Now each has its own diagnostic subcode which is genetics-based. Although ICD-10 is used for most countries, ICD-10-CM is the specific coding for the US.
In the ICD-10 system, alphanumeric codes are used in a person’s medical records to document their medical condition.
About the Implications
Dr. Eng enumerated the various implications for clinical care and research presented by the new code. The code allows patients access to coverage of cancer testing. The codes are tied to a specific treatment and used for billing the insurance companies. They assist researchers in locating people eligible for clinical trials.
Researchers will have a better understanding of how PHTS originates as well as the number of people with autism in this population. A proposal has been sent to the WHO to also add PHTS diagnostic code to ICD. That is the latest version used at the global level. The intent is to align the codes in order to facilitate epidemiological research.
As yet, there are no approved treatments for PHTS. Management of the disease includes cancer surveillance and available supportive care. The lack of effective treatment and the need for lifelong patient care presents a significant burden on the patient and the patient’s family as well as the healthcare system.
