Erdheim-Chester Disease

Myocarditis in Erdheim-Chester disease

“…Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm characterized by multisystem involvement affecting bones, heart, lungs, large arteries, central nervous system (CNS), kidneys, eyes, retroperitoneum, and the skin [ 1 , 2 ]. The most common clinical manifestations include bone pain, predominantly in the lower extremities, and diabetes insipidus [ 1 ].…”

“…Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm characterized by multisystem involvement affecting bones, heart, lungs, large arteries, central nervous system (CNS), kidneys, eyes, retroperitoneum, and the skin [ 1 , 2 ]. The most common clinical manifestations include bone pain, predominantly in the lower extremities, and diabetes insipidus [ 1 ]. A critical aspect of ECD is its cardiovascular complications which can occur in up to 70% of cases [ 3 ] and includes myocardial infarction, conduction abnormalities, heart failure, right atrioventricular (AV) groove infiltration, right atrial pseudotumor, pericarditis, pericardial effusion, fatal cardiac tamponade, stenosis or occlusion of veins, and multiple arterial stenoses leading to claudication or infarction [ 3 ].…”

Letter to the Editor. Clinical manifestations of Erdheim-Chester disease besides epilepsy

“…The patient had retroperitoneal fibrosis, which caused ureteral obstruction and is a common feature of ECD. 2 The patient also had diabetes. 1 Because diabetes can be a complication of pancreatitis and pancreatitis is a manifestation of ECD, it is conceivable that diabetes was a third ECD manifestation in addition to epilepsy and retroperitoneal fibrosis.…”

“…We should know whether the patient remained seizure-free, whether antiseizure drugs (lamotrigine, levetiracetam) could be discontinued after surgery, whether the right temporal lesion regressed or progressed, and whether the patient tolerated the immunosuppressive therapy (dabrafenib, trametinib) without side effects. Because ECD is a progressive, multisystem disease, 2 we should know whether organs other than the brain, bones, and retroperitoneum were affected as the disease progressed.…”

“…ECD is a disorder that commonly affects arteries through sheathing and leads to focal stenosis or occlusion, especially of large but also of medium-sized arteries, and then to ischemia in the corresponding vascular bed. 2 The aorta and its major branches are most commonly affected, although there are also reports about the involvement of carotid, vertebral, and intracranial arteries. 4 Often, ECD also affects the pituitary gland and manifests clinically as diabetes insipidus, polydipsia, and electrolyte disturbances.…”