Management Guidelines
Clinical practice guidelines for PIK3CA-related overgrowth spectrum have been published (full text). Additionally, a targeted pharmacologic therapy has been FDA approved .
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual with PIK3CA-related overgrowth spectrum (PROS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Note: Assessment is complicated by variable findings in individuals with this condition. Accurate and thorough assessment of medical history is necessary to evaluate for vascular malformations as well as other clinical features.
Table 5.
Recommended Evaluations Following Initial Diagnosis in Individuals with PIK3CA-Related Overgrowth Spectrum
System/Concern | Evaluation | Comment
Constitutional
(overgrowth) | Measure growth parameters incl head circumference, total body length, length of arms, hands, legs feet. | To assess for generalized segmental overgrowth (incl leg length discrepancy) macrocephaly
Consider whole-body MRI. | In those w/truncal overgrowth
Consider limb radiographs subsequent limb MRI. | In those w/segmental or generalized overgrowth of a limb
Consider spinal ultrasound in infants spinal MRI (w/MR angiography) in older persons. | In those w/evidence of spinal involvement (See also Cardiovascular/Vascular in this table.)
Clinical assessment for pain functional impairment |
Constitutional
(undergrowth
or generalized
growth
Source: GeneReviews — "PIK3CA-Related Overgrowth Spectrum"
