Beyond the Physical Symptoms: An Exploratory Single‑Case Psychological Profile of an Adult with HSAN‑II.

Abstract

Aim: Hereditary Sensory and Autonomic Neuropathy Type II (HSAN‑II) is an extremely rare autosomal recessive disorder characterized by progressive sensory loss, recurrent ulcers, and frequent amputations. Despite its severe physical consequences, the psychological impact of HSAN‑II remains largely unexplored. This exploratory single‑case report presents the psychological profile of a 31‑year‑old Iranian man diagnosed with HSAN‑II.

Methods: A semi‑structured clinical interview and a battery of standardized psychological instruments were administered, including the Interpersonal Communication Skills Questionnaire, Rosenberg Self‑Esteem Scale, Differentiation of Self Inventory, Ryff's Psychological Well‑Being Scale (18‑item version), and Body Image Concern Inventory.

Findings: Results revealed profound impairments across multiple domains: low interpersonal communication skills (total score = 121), low self-esteem (score = 18), poor self-differentiation (total score = 145), markedly reduced psychological well-being (total score = 49), and clinically significant body image concerns (total score = 76). Qualitative findings indicated that prolonged hospitalizations, social isolation during critical developmental periods, and visible physical deformities (including multiple amputations) were major contributing factors to these psychological difficulties.

Conclusion: This preliminary single‑case evidence highlights the substantial psychosocial burden associated with HSAN‑II and underscores the need for routine psychological screening and multidisciplinary care in patients with rare genetic neuropathies. Although findings are not generalizable, they point to the potential value of early psychosocial interventions targeting body image, self‑esteem, and social skills.