An Unprecedented Association; Coronary Artery Disease and Sagliker Syndrome

Abstract

Sagliker syndrome (SS) develops in chronic kidney disease patients because of insufficiently treated secondary hyperparathyroidism (SHPT) at an early stage. Studies indicating the potential association of the pathophysiology of the syndrome with genetic mutations are available. Phenotypic characteristics such as Brown tumors, lytic non-neoplastic bone lesions resulting from abnormal bone metabolism, deformities in the mandible and maxilla, irregularly spaced teeth, hypertrophic prominence of the lips, short neck, and slender upper and lower extremities are prominent in these patients. Brown tumors are often found in the metaphyses of the long bones, pelvis, maxilla, and costae, with significant involvement observed in our patient’s bilateral costae. The facial deformities in our patient were consistent and similar to the phenotype findings in other cases reported in the literature. In patients with chronic kidney disease (CKD), anemia is frequently observed because of increased SHPT, with a direct toxic effect on erythropoietin synthesis and erythropoietin progenitors in bone marrow. While anemia is common, bone marrow fibrosis and pancytopenia are much rarer. Although hyperparathyroidism is considered to be the responsible factor in the pathophysiology of SS, the literature does not report an association between SS and bone marrow fibrosis, making our case the first presentation of such an association. The high prevalence and early onset of coronary artery diseases (CAD) in patients with CKD are associated with a combination of systemic inflammation, oxidative stress, hypertension, vascular calcification, and disruptions in bone metabolism. In the patient’s medical history, there was no presence of hypertension, diabetes, smoking, or a family history of these conditions. SHPT in end-stage renal disease has been shown to accelerate vascular calcification and subclinical atherosclerosis. The presence of early-onset CAD in our patient, despite the absence of traditional risk factors, raises the question of whether hyperparathyroidism, a prominent factor in this syndrome, played a significant role in its etiology.

Keywords

• renal osteodystrophy
• secondary parathyroidism
• hypercalcemia
• brown tumor
• angina
• coronary angiography