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A very rare form of amyloid polyneuropathy. Cardiomyopathy has also been reported with this disorder.

Amyloid Polyneuropathy Indiana type; Hereditary Neuropathic Amyloidosis II; Prealbumin-84 Amyloidosis Type II; Senile Systemic Amyloidosis Syndrome; Dysprealbuminemic Hyperthyroxinemia.

First described by J.G. Rukavina in 1956.

Autosomal dominant; gene located on 18q11.2-q12.1. It is allelic to transthyretin.

Mutation in the transthyretin (prealbumin) protein. This protein maintains normal levels of thyroid hormone, retinol, alpha-1-Antitrypsin and retinol-binding protein in the circulation.

Demonstration of amyloid deposition in various tissues. The specific amyloidosis type is based on the genetic demonstration of a mutation in the prealbumin protein (substitution of serine for isoleucine at position 84). Onset is usually in the fifth decade of life. Neuropathic manifestations begin and predominate in the upper limbs. Carpal tunnel syndrome is characteristic.

The disease is milder in females, appearing in adult age and progressing slowly, with a 20-year survival time. Autonomic dysfunction is an early finding with orthostatic hypotension. Vitreous opacities and visceral manifestations (cardiac and renal amyloidosis) are milder than in amyloidosis I.

Proper medical history and physical examination for cardiac involvement of amyloidosis (diastolic cardiac dysfunction, cardiac failure) and conduction problems (clinical, ECG, Holter, echocardiography, radionuclide imaging if necessary) must be obtained. If the patient is carrying a permanent pacemaker, a preoperative pacemaker check is advised. Evaluate renal function (clinical, echocardiography, laboratory) and thyroid hormones and function (free thyroxin and thyroid-stimulating hormone levels). A thorough assessment for signs of severe autonomic dysfunction such as orthostatic hypotension must be obtained.

Be prepared for a high degree of cardiac conduction block. A transcutaneous pacing device must be available in the operating room. If the patient is equipped with a pacemaker, the usual precautions are applicable during the intra-operative period (e.g., magnet). Watch for hemodynamic instability caused by autonomic dysfunction. Consider the existence and severity of the polyneuropathy and autonomic dysfunction before using regional anesthesia (lumbar epidural anesthesia described).

Since alpha-1-antitrypsin level can be affected, precautions must be taken with anesthetic indications having affinity with this protein. Premedication or induction should include atropine; avoid conduction-blocking agents or parasympathomimetic effects. When making anesthetic drug choice and dose, consider renal status.

Eriksson P, Boman K, Jacobsson B, et al: Cardiac arrhythmias in familial amyloid polyneuropathy during anesthesia. Acta Anaesthesiol Scand 30:317, 1986.  [PubMed: 3739594]
Rukavina JG, Block WD, Jackson CE, et al: Primary systemic amyloidosis: A review and an experimental, genetic and clinical study of 29 cases with particular emphasis on the familial form. Medicine (Baltimore) 35:239, 1956.  [PubMed: 13368965]

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