Hereditary lipodystrophies: how not to miss the diagnosis?

The insufficient awareness of the medical community about hereditary lipodystrophies makes it difficult to detect this pathology. Despite progress in understanding the molecular-genetic basis of various lipodystrophy syndromes, many patients still elude the attention of doctors and only learn about their condition at later stages. The American Association of Clinical Endocrinology (AACE) has established an expert working group that includes practicing physicians and leaders in the treatment and research of lipodystrophy syndromes to develop clinical guidelines. Lipodystrophy syndromes represent a heterogeneous group of extremely rare diseases, all characterized by a deficiency of adipose tissue in the absence of dietary deprivation or a catabolic state. Inherited lipodystrophies are associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, hepatic steatosis, polycystic ovary syndrome, and acanthosis nigricans. Lipodystrophy syndromes are heterogeneous and diagnosed based on a combination of phenotypic manifestations, clinical examination data, and supplemented by the results of genetic testing. Patients with a confirmed diagnosis should undergo annual screening for diseases associated with these syndromes in order to detect them earlier. According to the literature, the prevalence of inherited lipodystrophy syndromes is estimated to be 1 case per 1 million people. Due to their rare occurrence, most clinicians are unfamiliar with this diagnosis and its treatment principles. Therefore, raising awareness among physicians from various specialties about this orphan pathology is crucial for earlier diagnosis, which is the main objective of this publication.