Familial dyslipidemias
Dyslipidemias are conditions characterized by abnormal levels of specific blood lipid fractions. They may be secondary (due to systemic diseases, lifestyle factors, or medications), multifactorial (involving both environmental and genetic factors, primarily polygenic), or primary/hereditary (with a genetic basis, either polygenic or monogenic). These conditions represent a major risk factor for serious internal medicine complications, most notably atherosclerotic cardiovascular disease, which remains the leading cause of morbidity and mortality in Western populations.
The Center is affiliated with the LIPIGEN network (LIpid TransPort Disorders Italian GEnetic Network) of the Italian Society for the Study of Atherosclerosis (SISA), which is an integral part of the European Atherosclerosis Society (EAS) network for the diagnosis and treatment of familial dyslipidemias. It is a recognized reference Center for these pathologies, collaborating with the Clinical Genomics Service of the Modena University Hospital for genetic analysis. Furthermore, the Center serves as a prescribing site for high-cost specialty drugs and participates in numerous observational studies, patient registries, and pharmacological clinical trials for dyslipidemias.
Rare inherited metabolic disorders
The Unit of Internal Medicine and Metabolic Diseases is a reference Center for the diagnostic certification, treatment, and follow-up of various rare inherited metabolic disorders, notably including lysosomal storage diseases (LSDs).
LSDs represent a group of rare inherited metabolic disorders of significant importance due to their prevalence and severity. LSDs comprise a heterogeneous family of over 70 multisystemic and progressive pathologies caused by various genetic defects, all sharing the hallmark of intralysosomal metabolite accumulation leading to cellular dysfunction. The clinical spectrum of LSDs is extremely diverse, depending on the gene involved, the specific metabolite that accumulates, and the organ systems affected. These include severe infantile-onset forms, often characterized by psychomotor developmental delay and central nervous system involvement with rapid neurological deterioration leading to early mortality. More frequent are the so-called late-onset or adult-onset forms, characterized by highly variable and multisystemic signs and symptoms that often require differential diagnosis with common diseases. Among the adult-onset forms, the most common are Gaucher disease type 1, acid sphingomyelinase deficiency (ASMD), Fabry disease, and Pompe disease (also known as glycogen storage disease type II).
The Center is affiliated with the Italian Society for the Study of Inherited Metabolic Diseases and Newborn Screening (SIMMESN) and participates in numerous observational studies, registries, and pharmacological clinical trials for inherited metabolic disorders.
Chronic Liver Diseases
The clinical and research activities of the Unit of Internal Medicine and Metabolic Diseases also focus on the diagnosis, treatment and follow-up of chronic liver diseases of various etiologies, including viral hepatitis, cholestatic and autoimmune liver diseases, and metabolic dysfunction-associated steatosic liver disease (MASLD) and steatohepatitis (MASH).
The Center participates in numerous observational studies, registries, and pharmacological clinical trials for chronic liver diseases.
Another current area of research focuses on non-invasive markers for the identification of progressive forms of MASLD (MASH with fibrosis), by integrating clinical and biochemical data, imaging modalities, and lipidomics/metabolomics.
Clinical Ultrasound
The Center also includes a Clinical Ultrasound Service that provides advanced, non-invasive diagnostic imaging for the multi-systemic assessment of various conditions – including chronic liver diseases, metabolic-related vascular damage, and rare storage disorders – utilizing high-resolution imaging and elastography techniques for both clinical and research purposes.