MALNUTRITION AND GASTROINTESTINAL DYSFUNCTION AS PROGNOSTIC FACTORS FOR SURVIVAL IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY

Objectives. To describe the evolution of nutritional and neurological complications in a Swedish population of patients with familial amyloi dotic polyneuropathy, and to identify prognostic factors and useful te sts for monitoring the progress of the disease. Design. Prospective an d retrospective study of patients with familial amyloidotic polyneurop athy. Setting. Tertiary referral centre. Subjects. Twenty-seven patien ts with familial amyloidotic polyneuropathy, and a symptomatic onset b efore the age of 50. Main outcome measures. Age at onset, duration of disease before death, serum albumin, body mass index (BMI), duration a nd grade of peripheral neuropathy and gastrointestinal disturbances. F aecal fat, xylose test and (75)selenohomocholic acid-taurine (SeHCAT) test were used for assessment of malabsorption. Results. Thirteen pati ents died during the study period after a disease duration of between 9 and 18 years (mean 13). A short time interval between the onset of n eurological and of gastrointestinal symptoms had greater impact on sur vival than age at onset in this selected group of patients (r = 0.65; P = 0.017). Malnutrition was evaluated by multiplying the [body weight (kg)/height(2) (m)] with the serum albumin to compensate for oedema. This modified body mass index (mBMI) was significantly correlated to t he number of years before death (r = 0.89; P < 0.0005) and to the dura tion of gastrointestinal symptoms (r = -0.66; P < 0.0005), but not to duration of disease (r = -0.2; P = 0.20). Polyneuropathy was graded ac cording to functional capacity from I to IV (PND score) and was correl ated to the number of years before death and mBMI, but not to serum al bumin. The SeHCAT test for bile acid malabsorption was significantly c orrelated to the duration of gastrointestinal symptoms and to mBMI (r = -0.67; P = 0.0003 and r = -0.62; P = 0.003, respectively). Conclusio n. The investigation disclosed that a short time interval between the onset of neurological and of gastrointestinal symptoms is associated w ith a decreased survival time. The mBMI was closely related to time be fore death, duration of gastrointestinal disturbances, malabsorption a nd functional capacity. The mBMI appears to be well suited to monitori ng disease progress and gives prognostic information.