Revista Colombiana de Endocrinología, Diabetes & Metabolismo

Clinical management of homozygous familial hypercholesterolemia: Perspectives from an expert panel

Mon, 21 Sep 2026 00:00:00 -0500

Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare but severe genetic disorder characterized by extremely elevated LDL-C levels from birth, leading to accelerated atherosclerosis and premature cardiovascular disease. Despite advances in lipid-lowering therapies, the evidence guiding clinical practice remains heterogeneous, highlighting the need for an expert consensus to synthesize available data and provide practical recommendations.

Objective: This narrative review aims to unify current medical evidence to guide the management of homozygous familial hypercholesterolemia (HoFH). Through a multidisciplinary expert consensus, the panel seeks to synthesize the available scientific information on HoFH. The main objective is to provide the medical community with practical, clear recommendations to optimize patient care, emphasizing three fundamental areas: improving the accuracy of early diagnosis, structuring comprehensive clinical management, and evaluating the effectiveness of emerging therapies. Ultimately, the panel's goal is to support actions to reduce the risk of premature cardiovascular disease, as well as to standardize the care of HoFH.

Methodology: This narrative review was developed through a multidisciplinary consensus process. Experts in internal medicine, cardiology, endocrinology, paediatrics, and medical genetics defined key topics, drafted sections according to their expertise, and iteratively refined the content through collaborative discussions. Evidence was selected pragmatically, based on clinical relevance and applicability, to inform diagnosis, management, and emerging therapies for HoFH.

Results: The review addresses major domains in the care of HoFH, including clinical and genetic diagnosis, differential diagnosis, cascade screening, cardiovascular risk assessment, and therapeutic approaches. Both non-pharmacological and pharmacological interventions are discussed, from statins and ezetimibe to lomitapide, evinacumab, and novel emerging therapies. Special populations such as paediatric patients and pregnant women are also considered. Additionally, the review highlights the social and public health impact of HoFH, emphasizing the importance of early detection and equitable access to advanced therapies.

Conclusions: HoFH is more prevalent than previously recognised and requires early diagnosis and comprehensive management. This consensus synthesizes expert experience and current evidence to provide practical guidance for clinicians. By integrating pharmacological, non-pharmacological, and genetic strategies, it aims to improve outcomes and reduce the cardiovascular burden of HoFH.

Luteinizing hormone and follicle-stimulating hormone in bone physiology and pathophysiology: A narrative review

Thu, 27 Aug 2026 00:00:00 -0500

Context: Bones are highly dynamic organs that depend on constant and balanced remodeling to maintain their homeostasis. Bone tissue is sensitive to hormonal stimuli, which can influence bone remodeling processes and, in some cases, lead to imbalances that result in various bone-related diseases. Recent research has shown that bone cells are sensitive to follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which appear to affect bone remodeling in health and disease.

Objectives: To explore the roles of luteinizing hormone and follicle-stimulating hormone in bone remodeling and the development of systemic and alveolar bone diseases in males and females.

Methodology: A literature search was conducted in the PubMed and Google Scholar databases. We used the following keywords and their combinations as search criteria: FSH, LH, follicle-stimulating hormone, luteinizing hormone, bone remodeling, alveolar bone, periodontitis, arthritis, osteoporosis, bone metastasis, men, and women.

Results: Emerging evidence suggests that follicle-stimulating hormone and luteinizing hormone play a significant role in bone metabolism and actively contribute to bone diseases such as osteoporosis, rheumatoid arthritis, bone metastasis, and periodontitis through inflammatory and pro-apoptotic mechanisms and by modulating the differentiation and activity of osteoblasts and osteoclasts.

Conclusion: The increase in follicle-stimulating hormone and luteinizing hormone are associated with the development and severity of different bone diseases. These findings provide a fresh perspective on the relationship between bone health and gonadotropins. Modulation of gonadotropin levels may represent a good therapeutic target for the treatment of various systemic pathologies of the skeleton and oral cavity.

“Diabetic hand”: Hand complications in people with diabetes

Fabiola Prado Barragan de Nitsch — Mon, 10 Aug 2026 00:00:00 -0500

Context: Distal and symmetrical diabetic peripheral neuropathy affects the feet first, and later, the hands. Its natural history may conclude in diabetic foot syndrome. It is one of the most frequent diabetes complications. This raises the question of which are the most common hand complications in people with diabetes and whether hand and foot complications share similar physio pathological mechanisms.

Objective: To analyze the most frequent hand problems in people with diabetes and their similarities and differences compared with those of diabetic foot syndrome.

Methodology: A search of indexed scientific literature was conducted.

Results: Hand problems are more frequent in people with diabetes than in the general population. They are associated with microvascular complications, especially retinopathy, longer disease duration, and poor glycemic control. Diabetes is neither a cause nor a risk factor for hand deformities; however, frequent causes include trauma and compression neuropathies. The most common extra-articular hand problems in people with diabetes are: 1) diabetic cheiroarthropathy (hand rigidity or limitation of articular mobility); 2) the compression or entrapment neuropathies, of which the most common is carpal tunnel syndrome; and 3) fibroproliferative disorders (trigger finger and Dupuytren’s contracture). Management focuses on improving glycemic control, alleviating pain, and preserving or improving function.

Conclusions: Hand problems in people with diabetes are musculoskeletal disorders and have a different etiology from that of diabetic microvascular complications.

Validity of body mass index and glycated hemoglobin in the evaluation of metabolic syndrome: Alternative strategies for cardiovascular risk prediction

Thu, 20 Aug 2026 00:00:00 -0500

Context: Metabolic syndrome (MS) is a major public health problem due to its high prevalence and association with cardiovascular disease and type 2 diabetes mellitus. Obesity is its main component, and body mass index (BMI) has traditionally been used as a diagnostic measure, despite its limitations. Additionally, glycated hemoglobin (HbA1c) is widely used in metabolic assessment, although its interpretation in isolation may be insufficient.

Objective: To analyze and compare the evidence on body mass index and glycated hemoglobin as diagnostic and monitoring parameters for metabolic syndrome, identifying their limitations and exploring accurate, clinically applicable alternatives for clinical practice.

Methodology: A narrative review of the literature published between 2015 and 2025 was conducted in PubMed, ScienceDirect, SpringerNature, and Google Scholar, using MeSH terms related to “Body Mass Index”, “Glycosylated Hemoglobin”, and “Metabolic Syndrome”. Original articles and reviews in English and Spanish were included, focusing on adults and the diagnostic evaluation of metabolic syndrome. Publications in other languages, pediatric studies, and publications unrelated to the objective of the review were excluded. A total of 82 articles were included. No formal risk of bias assessment or quantitative analysis of the evidence was performed.

Results: Body mass index and glycated hemoglobin, although accessible and widely used, have limitations in the assessment of metabolic syndrome. Complementary anthropometric alternatives and biomarkers that could improve cardiometabolic risk stratification are described.

Conclusions: body mass index and glycated hemoglobin remain useful, but they should not be used as the sole tools in the assessment of metabolic syndrome.

Case report and literature review: autoimmune polyglandular syndrome type 3A/D, rheumatoid arthritis, and hereditary dehydrated stomatocytosis

Fri, 14 Aug 2026 00:00:00 -0500

Introduction: Autoimmune polyglandular syndrome is an autoimmune entity characterized by the presence of two glandular insufficiencies in association with other non-endocrine immunological diseases, with four subtypes currently recognized.

Objective: To report the case of an 18-year-old woman with autoimmune polyglandular syndrome type 3A, rheumatoid arthritis, and dehydrated hereditary stomatocytosis, emphasizing that the coexistence of these conditions has not been previously described in the literature.

Case presentation: We present the case of an asymptomatic 18-year-old woman with altered glucose levels detected during routine laboratory testing, who subsequently developed synovitis in the hands with documented rheumatoid arthritis and persistent anemia related to hereditary dehydrated stomatocytosis.

Discussion: Autoimmune polyglandular syndrome type 3A (APS-3A) has a significant association with rheumatoid arthritis (RA). However, in this patient, it coexists with another rare genetic condition, hereditary stomatocytosis. This is the first description in the literature of the coexistence of these conditions.

Conclusion: There is limited literature addressing the association between diabetes mellitus, rheumatoid arthritis, and hereditary dehydrated stomatocytosis, underscoring the importance of this case.

Autoimmune polyglandular syndrome type 2

Fri, 28 Aug 2026 00:00:00 -0500

Introduction: Autoimmune polyglandular syndrome type 2 (APS-II) is a rare disorder characterized by the coexistence of primary adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. It may also be associated with other endocrine and non-endocrine autoimmune conditions.

Objective: To report a clinical case of autoimmune polyglandular syndrome type 2 and highlight the importance of its timely recognition in clinical practice.

Case presentation: A 33-year-old woman with a history of autoimmune hypothyroidism and vitiligo presented with constitutional symptoms and cutaneous manifestations. Evaluation revealed adrenal crisis, hypergonadotropic hypogonadism, the presence of positive antithyroid antibodies, and thyroid dysfunction, findings consistent with APS-II. Treatment with glucocorticoids, mineralocorticoids, and hormone replacement therapy was initiated, with progressive clinical improvement.

Discussion: Autoimmune polyglandular syndrome type 2 is a challenging diagnosis due to its heterogeneous and progressive presentation. A high index of suspicion is required, especially in patients with multiple autoimmune conditions. The combination of clinical manifestations and hormonal studies allows for diagnosis and guides appropriate treatment. Although less common, hypergonadotropic hypogonadism may occur as part of the clinical spectrum.

Conclusion: This case underscores the importance of considering autoimmune polyglandular syndrome type 2 in patients with multiple autoimmune diseases. Early diagnosis enables appropriate treatment and helps prevent serious complications. Additionally, it contributes to raising awareness of this condition in Colombia, where reports remain scarce.