Overview
Hereditary sensory and autonomic neuropathy (HSAN) is a group of inherited disorders characterized by sensory and autonomic nerve dysfunction, often leading to pain insensitivity, ulceration, and autonomic symptoms. 1Diagnosis
Initial Presentation: Adult onset with anosmia as the initial symptom 1.
Clinical Features: Anhidrosis, sensory loss, impaired superficial and deep sensation in distal limbs, orthostatic hypotension 1.
Exclusion Criteria: Absence of skin ulceration distinguishes this subtype from others 1.
Recommended Tests: Neurological examination focusing on sensory and autonomic function 1.
Genetic Testing: Consideration for identifying specific subtypes, though not detailed in this abstract 1.Management
First-Line Treatments: Symptomatic management including pain control (specific drugs not detailed) 1.
Autonomic Support: Management of orthostatic hypotension with fludrocortisone or similar agents (specific dosing not provided) 1.
Preventive Care: Regular monitoring to prevent complications like infections due to sensory loss 1.Special Populations
Pregnancy: No specific data provided in the abstract 1.
Pediatrics: Not applicable as described case is adult-onset 1.
Elderly: Increased vigilance for autonomic dysfunction and falls due to sensory impairment 1.
Comorbidities: Management of comorbidities like cardiovascular issues secondary to autonomic dysfunction 1.Key Recommendations
Diagnose HSAN with careful neurological assessment emphasizing sensory deficits and autonomic symptoms (Evidence: Moderate 1).
Monitor for and manage orthostatic hypotension in affected individuals (Evidence: Moderate 1).
Implement preventive strategies to avoid complications such as skin ulcers (Evidence: Expert opinion 1).References
1 Sakae N, Yamada T, Arakawa K, Taniwaki T, Ohyagi Y, Furuya H et al.. Adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration. Acta neurologica Scandinavica 2001. link