A hereditary form of amyloidosis with accumulation of amyloid in organs and tissues of the body. It is characterized by predominantly neurological symptoms, with onset usually in the third or fourth decade, affecting both sexes. Orthostatic hypotension precedes other symptoms. Insidious progression of initial peripheral symmetric paresthesias of lower extremities, slowly to motor disturbance (drop foot, tottering, and abnormal gait), and eventually spreading into upper extremities and trunk. Long list of other symptoms include absent deep tendon reflexes, fasciculation, trophic skin lesions perforating ulcers, muscle wasting. Impotence, premature menopause, orthostatic hypotension, hypohidrosis, urinary and faecal incontinence, constipation or diarrhoea, anorexia, mucus in the stools, and other gastrointestinal complications are usually associated. Also visual disorders. In the advanced stages, there are recurrent infections, cachexia, cardiac collapse, and death, usually 7 to 12 years from the onset. Initial cases were reported in persons of Portuguese descent, but later observations indicate that this syndrome occurs also in other ethnic groups. Unknown aetiology. Autosomal dominant inheritance.
First description in 1942 by Friedrich Wohlwill. Corino M. Andrade in 1951/1952 reported his clinical observations, first made in Porto, which eventually led to the elucidation of the disease common among the fishing population of Póvoa de Varzi, known under the name of «foot disease».
- F. Wohlwill:
Formas atipicas da amiloidose.
Amatus Lusitanus, Lisboa, 1942, 1: 373-391.
- C. M. Andrade:
A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of peripheral nerves.
Brain, Oxford, 1952, 75: 408-427.