Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP)

Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by acute attacks often triggered by porphyrinogenic drugs and a low-glucose diet. According to recent findings, chronic symptoms persist in AIP patients. To avoid the symptoms, patients often adopt preventive strategies such as increasing glucose intake, suggesting that nutrition is a crucial aspect of disease management. Given the strong connection between AIP and glucose, we assessed anthropometric data, biochemical data and nutritional evaluation, in 16 AIP females and hypothesized that an increase in glucose consumption may lead to an imbalance in nutrition and metabolism. The results indicated that 14 out of 16 patients consumed high levels of simple sugars and saturated fatty acids (SFA), leading to overweight conditions (BMI > 25) in 50% of patients. The bioelectrical impedance analysis (BIA) showed excess fat mass in 64% of patients aged 30-49 years and 40% of patients aged 51-70 years; these results were more accurate than those obtained using BMI alone. Excessive intake of simple sugars and SFA resulted in elevated blood LDL levels in 36% of younger patients and 80% of older patients. Although the dietary intake of HDL was low, its levels were above normal and positively correlated with age (r = 0.56, p = 0.02). Overhydration, indicated by an elevated ECW/TBW ratio, was positively correlated with cortisol levels (r = 0.67, p = 0.008), suggesting metabolic stress.To summarize, excessive consumption of simple sugars and SFA affects the body composition and biochemical markers of AIP patients, emphasizing the need for nutritional support to prevent metabolic syndrome and manage chronic symptoms.