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Detection of PTEN Hamartoma Tumor Syndrome (PHTS) and Related Conditions with macrocephaly and lipomas using Electronic Health Record (EHR)Triage. 

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
Introduction:
Macrocephaly and skin findings are considered early clinical signs in patients with PTEN hamartoma tumor syndrome (PHTS). Macrocephaly is defined as a head circumference greater than 2 standard deviations (SD) above the mean, while head circumference exceeding 4 SD above the mean (Z-score) serves as a significant clinical marker for neurogenetic syndromes, including PHTS. Our study examines the correlation documentation of macrocephaly and the presence of lipomas based on ICD10 codes, and the likelihood of PTEN gene diagnosis. Our study emphasizes the need for adequate measurement for HC, complete skin examination and structured documentation of findings in the charts using appropriate diagnostic codes.

 

Methods:
A retrospective search of electronic medical records was conducted for patients presenting with macrocephaly and lipomas, utilizing the ICD coding system (ICD Q75.3 for macrocephaly and D17 for lipomas), regardless of whether these conditions were documented at the same visit. This search identified twenty-one patients, whose charts were manually reviewed. The following variables were collected: age, head circumference (maximum obtained HC, excluding outliers), Z-score of head circumference, clinical symptoms at presentation, whether molecular testing for the PTEN gene or macrocephaly panel was performed, and the results of genetic testing. Data analysis focused on Z-scores, the genetic diagnoses, and characteristic clinical presentations among patients with and without PTEN gene mutations.

 

Results:
Of the 21 cases, 1 was positive for Tuberous sclerosis, 1 for Gorlin syndrome and one for PIK3CA gene. One patient was referred for autism and macrocephaly (considered familial) initially, chromosomal microarray and Fragile X was negative. Lipoma was reported in a visit after the genetics visit and PTEN testing was not yet recommended. Two patients were not seen by Genetics in our hospital. 15 out of 21 patients were offered testing for PTEN gene or a macrocephaly gene panel. Of the 15 patients who were offered testing for PTEN gene, test results were available for 13 patients, out of which 9 patients were confirmed positive for PTHS. Of the 9 patients who were positive for PTHS, Z scores for HC were >4 SD for 7 patients (78%) and for the remaining 2 patients, it was 2.6 and 3.4, respectively. Of note, there was only one HC available in the chart for these two patients. For those tested negative for PTEN, the Z scores >4 SD was seen in only one patient (25%). The diagnosis codes for lipoma or macrocephaly were often not coded until seen by genetics suggesting these codes are underused even when the exam findings were previously noted.

 

Conclusion:
Overgrowth disorders such as PTEN often have extreme macrocephaly and looking at Z scores and the degree of macrocephaly, is a powerful triage tool for patients that need a more thorough evaluation. Documentation of clinical features in the EHR with ICD10 codes is limited, but combinations of specific ICD10 codes can be sensitive for identification of specific genetic diagnoses within the EHR.

 

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