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 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
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)