Studies show that 45% of patients with XLH have high blood pressure.

High blood pressure is a significant public health burden and is a major risk factor for cardiovascular disease and a cause of death in the general population. It is a chronic condition and is estimated to affect about 20% of adults worldwide. According to the study “Plasma metabolomics in patients with chronic hepatitis and arterial hypertension: new data on the underlying mechanisms” – carried out by the University and Polytechnic Hospital La Fe (Valencia) and other regions of the Valencian Community with the support of Köva Kirin -, This percentage increases to 45% in patients with X-linked hypophosphatemia (XLH)., especially in children and young adults, increasing the risk of morbidity, mortality and cardiovascular disease.

XLH is a rare disorder that begins in childhood and affects approximately 1 in 20,000 people. Children with XLH typically suffer from skeletal deformities, bowing of the lower limbs when they begin to walk, cranial abnormalities, motor delays, short stature, muscle weakness, and bone and joint pain.

““XLH patients are subjects who have a high risk of hypertension at an early age compared to the general population, which leads to their classification as patients with high cardiovascular risk,” holds He Dr. Luis Carlos Lopez Romero, Nephrologist at Manises Hospital (Valencia).

This study is the first to analyze the link between high blood pressure and XLH using a metabolomic approach. Their sample is one of the largest in Europe and the largest in adult patients with XLH in Western Europe.

To this end, an analysis of XLH patients with and without hypertension was conducted to study the metabolomic features of hypertension in order to identify metabolites that may provide information on the pathophysiology of this disease, as well as future lines of research.

Among the main findings of the study are: “It has been observed that hypertension in patients with XLH may be associated with the presence of secondary or tertiary hyperparathyroidism, nephrocalcinosis and/or altered renal function. There are various theories about the role of vitamin D, phosphate treatment and, above all, the role of FGF23 as possible factors involved in its occurrence. However, there is no clear evidence on this matter, so studies like the one we have designed may shed more light on this issue.“, – he explains. Dr. Lopez.

At the same time, the expert adds that “Acetylcarnitine, pyruvate, ethanolamine and butyric acid were the metabolites detected in XLH hypertensive patients with statistically significant differences compared with XLH hypertensive patients.“.

In this situation, “We should give general advice or measures to patients with hypertension, such as avoiding a sedentary lifestyle, which is often complicated by the fact that they usually do not exercise due to the pain caused by the disease itself. Dietary measures and exercise are important. The patient should be encouraged to “move” and that the disease is not a limitation“, – says the doctor.

Metabolomics: Key to Diagnosis and Approach

He Dr. Lopez emphasizes that “The fact that these patients are children or young adults may lead us to miss the diagnosis. However, as doctors, we must be able to diagnose hypertension.”

“This is where metabolomics becomes a useful tool, as studying metabolites allows us to have a more complete and accurate picture of the patient’s phenotype, which can help us understand the pathophysiological changes in the disease.”– the doctor explains.

Definitely, “Manipulating metabolic pathways and personalized medicine represent the future, which could lead to earlier diagnosis, better treatment options, and prevention of cardiovascular complications.“concludes Dr. Lopez.