3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema

Abstract

Rare diseases pose a diagnostic conundrum to even the most experienced clinicians around the world. The technology could play an assistive role in hastening the diagnosis process. Data-driven methodologies can identify distinctive disease features and create a definitive diagnostic spectrum. The healthcare professionals in developed and developing nations would benefit immensely from these approaches resulting in quicker diagnosis and enabling early care for the patients. Hereditary Angioedema is one such rare disease that requires a lengthy diagnostic cascade ensuing massive patient inconvenience and cost burden on the healthcare system. It is hypothesized that facial analysis with advanced imaging and algorithmic association can create an ideal diagnostic peer to the clinician while assimilating signs and symptoms in the hospital. 3D photogrammetry has been applied to diagnose rare diseases in various cohorts. The facial features are captured at a granular level in utmost finer detail. A validated and proven algorithm-powered software provides recommendations in real-time. Thus, paving the way for quick and early diagnosis to well-trained or less trained clinicians in different settings around the globe. The generated evidence indicates the strong applicability of 3 D photogrammetry in association with proprietary Cliniface software to Hereditary Angioedema for aiding in the diagnostic process. The approach, mechanism, and beneficial impact have been sketched out appropriately herein. This blueprint for hereditary angioedema may have far-reaching consequences beyond disease diagnosis to benefit all the stakeholders in the healthcare arena including research and new drug development. Author summary The use of 3D facial imaging for clinical assessment has undergone rapid growth in recent years as the associated technical challenges previously hindering its adoption have been overcome. Accurately and objectively mapping the topography of the facial surface allows precise evaluation of an individual’s appearance. This can be very valuable when attempting to characterize the effects of certain diseases or therapeutic interventions. Many rare diseases have been associated with their distinctive facial traits; however, some disorders have more transient impacts on face shape, and as such only qualitative assessment has been available to date. Hereditary Angioedema (HAE) is one such disease; a rare and debilitating genetic disorder that causes frequent severe bouts of swelling mainly in the torso, throat, and face. It is necessary to understand the transient nature of this swelling–particularly in the facial region–to assist with diagnosis and to develop therapies designed to reduce the severity of swelling more effectively. In this report, we detail the specific nature of facial swelling in HAE patients with a view to later analyzing and characterizing the identified traits as they appear in HAE sufferers using 3D facial analysis.