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.

Fig 1. Key issues reflected different perspectives and consequential subjective differences in weightage to priorities applied by clinicians and patients.

A universal roadmap emerged through the consultation process, specifically that the QoL issues were integral to optimizing outcomes and reducing the overall impact of the burden of disease for both the stakeholders—the patient and the health system.

Fig 2. Features and importance of various facial elements and their resultant impact from people living with HAE amenable to Cliniface 3D photogrammetric analysis.

Subtle or drastic changes owing to edema.

Fig 3. Mock-up example of Cliniface 3D facial ‘Hereditary Angioedema treatment and monitoring report’ Parental consent was obtained from the parent (Gareth Baynam) of the child whose image is appearing in Fig 3 who is also the corresponding author.

Fig 4

(1) Increasing index of suspicion and improving early detection and diagnosis of HAE. (2) Early objective prodromal indicators of an imminent HAE episode. (3) Improve treatment outcomes and QoL for patients living with HAE.

Fig 5. Hypothesis benefit model in HAE patients with 3 D facial scan and Cliniface software.