The treatment of familial amyloid polyneuropathy (FAP) requires a multidisciplinary approach, mainly neurological and cardiological. It includes specific treatments to stop the progression of systemic amyloidogenesis, the symptomatic treatment of the peripheral and autonomic neuropathy and the treatment of organs severely involved by amyloidosis (heart, eyes, kidneys)[1].

Study and follow up of a cohort of 483 Portuguese patients with FAP in Porto enabled the disease course to be described in three stages [Coutinho et al. 1980]. Another staging system concerned the progression of walking disability in FAP [Steen and Ek, 1983] (Table 1).

Table 1. Stages of familial amyloid polyneuropathy for locomotion

Coutinho et al. [1980] Duration of stage Yamamoto et al. [2007]
Stage 1 The disease is limited to the lower limbs Walking without any help. Slight weakness of the extensors of the big toes 5.6 ± 2.8 years PND I Sensory disturbances in extremities Preserved walking capacity
Stage 2 Motor signs progress in lower limbs with steppage and distal amyotrophies, the muscles of the hands begin to be wasted and weak. The patient is by then obviously handicapped but can still move around, although needing help. 4.8 ± 3.6 years PND II



Difficulties walking but without the need for a walking stick

One stick or one crutch required for walking.

Two sticks or two crutches required for walking

Stage 3 The patient is bedridden or confined to a wheelchair, generalized weakness and areflexia. 2.3 ± 3.1 years PND IV Patient confined to a
wheelchair or a bed
PND, a modified polyneuropathy disability score.

Ref. Tab 2 Adams. Ther Adv Neurol Disord 2013;6:129–39


[1] Adams. Ther Adv Neurol Disord 2013;6:129–39