Nutritional status and body composition in patients with Fabry disease in comparison to hypertrophic cardiomyopathy

Introduction

Fabry disease is a systemic disorder that not only leads to left ventricular hypertrophy but also affects many other organs. One of these manifestations may be malnutrition, which would represent a potential therapeutic target.

Purpose

The aim of this study was to compare nutritional status and body composition in stable patients with Fabry disease (FD), in comparison to age-matched patients with hypertrophic cardiomyopathy (HCM) without left ventricular outflow tract obstruction (LVOTO).

Methods

Study group consisted of 29 patients with genetically confirmed FD (woman 38%; age 38±2,7 years; 66% were treated with agalsidase alpha or beta; 7% with migalastat).

Control group consisted of 38 patients with HCM without LVOTO (woman 21%; age 43±1,3 years).

We analyzed comprehensive laboratory tests, transthoracic echocardiography, Mini Nutritional Assessment (MNA) score and body composition using bioelectrical impedance analysis. The body composition results (values in kilograms) were indexed to height square based on correlation analyses (p<0,001).

Results

Patients with FD had lower weight (65±3 vs 89±4,6 kg), BMI (22±0,9 vs 31±2,6 kg/m2), haemoglobin level (13,4±0,2 vs 14,9± g/dl), creatinine level (1,3±0,4 vs 1,8±0,4 mg/dl) - all p≤0,001. FD patients had significantly lower MNA scores (23,2±0,7 vs 25,7±0,4 pts, p≤0,001), with 35% subjects at risk of malnutrition and 4% malnourished, compared with 13% at risk in and 0% malnourished in the HCM group.

Fabry subjects had lower lean (fat-free) body mass (17,5±0,4 vs 22±1 kg/m2), dry lean mass (4,4±0,3 vs 5,8±0,3 kg/m2) and body cell mass (9,9±0,3 vs 13±0,7 kg/m2) - all p<0,001, with no difference in fat content. The extracellular water content percentage in FD patients was higher (27±0,8 vs 24±0,6%, p<0,05) with no difference in total body water and intracellular body water percentage. In treated patients with FD there were no differences in MNA score and body composition parameters compared to the FD observation group. Lower indexed dry lean mass correlated with higher interventricular septal thickness (r=−0,51; p<0,02) and higher troponin I level (r=−0,75; p<0,01). Lower iron level correlated with lower MNA score (r=0,44; p≤0,03), and lower ferritin with lower LBM (r=0,44; p<0,05) and BCM (r=0,57; p<0,05).

Conclusions

Patients with FD regardless of receiving dedicated therapy exhibit a higher prevalence of hidden malnutrition compared with HCM patients, which is proportional to the severity of heart involvement. Increased extracellular water may reflect subclinical fluid imbalance in these patients. Hidden malnutrition may be a modifiable target for nutritional intervention in comprehensive care.