E85.1
Neuropathic heredofamilial amyloidosis
Clinical Classification Guidelines
Inclusion Terms
- Amyloid polyneuropathy (Portuguese)
- Transthyretin-related (ATTR) familial amyloid polyneuropathy
Medical Intelligence & Overview
Neuropathic heredofamilial amyloidosis, also known as transthyretin-related familial amyloid polyneuropathy (ATTR-FAP), is a hereditary neurological disorder characterized by the buildup of abnormal amyloid proteins in the body's tissues, particularly affecting the peripheral nerves. This condition manifests with progressive nerve damage, leading to various neurological symptoms and, sometimes, involvement of other organs. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene can cause the disorder.
Causes & Symptoms
Clinical Causes: Genetic mutation in the transthyretin (TTR) gene, leading to abnormal production of transthyretin protein Inheritance of the defective gene from one parent (autosomal dominant pattern) Accumulation of amyloid deposits primarily in nerve tissues, but may also affect the heart, eyes, and other organs
Key Symptoms: Sensory disturbances such as numbness, tingling, or burning sensations in the hands and feet Muscle weakness or loss of muscle mass Loss of reflexes and coordination issues Autonomic dysfunction such as dizziness, fainting, or gastrointestinal problems Cardiac symptoms including arrhythmias or heart failure in some cases Vision problems or ocular deposits in advanced stages Progressive worsening of nerve symptoms over time
Diagnostic & Treatment
Diagnosis Path: Detailed medical history focusing on inherited conditions and family history Physical and neurological examinations to assess nerve function Electrodiagnostic tests such as nerve conduction studies and electromyography Tissue biopsies to detect amyloid deposits using Congo red staining Genetic testing to identify mutations in the transthyretin (TTR) gene Laboratory assessments for organ function, especially cardiac evaluations
Treatment Protocols: Supportive therapies aimed at managing symptoms, including pain relief and physical therapy Medications to address autonomic symptoms such as blood pressure regulation Liver transplantation in some cases, to reduce production of mutant transthyretin protein Emerging therapies like transthyretin stabilizers (e.g., tafamidis) and gene silencing treatments Monitoring and managing cardiac and other organ-specific complications Participation in clinical trials for novel treatments
Clinical Advice & FAQs
Billing Guidance
Is E85.1 a billable ICD-10 code?
Yes, E85.1 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E85.1?
Clinical documentation must specify the nature of Neuropathic heredofamilial amyloidosis and any associated comorbidities for accurate reporting.
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