Baseline clinical evaluation recommendations for patients diagnosed with ECD
| Medical history . | Radiological evaluation . | Physical examination . | Laboratory evaluation . |
|---|---|---|---|
| Constitutional: fevers, night sweats, fatigue HEENT: double vision, retro-orbital pain Cardiovascular: dyspnea, orthopnea Pulmonary: dyspnea, cough Musculoskeletal: bone pain Dermatologic: xanthelasma, rash Endocrine: polydipsia/polyuria, gynecomastia, decreased libido Neurologic: ataxia, dysarthria, dysphagia, cognitive decline Psychiatric: depression, disinhibition, inappropriate laughing or crying | All patients CT chest, abdomen, and pelvis PET/CT including distal extremities MRI brain with contrast and detailed examination of the sella turcica Cardiac MRI Selected patients based on symptoms or organ involvement MRI orbit with contrast Renal artery ultrasound High-resolution CT chest Pulmonary function tests Testicular ultrasound Electromyography | HEENT: xanthelasma, exophthalmos Cardiac: hypertension, irregular pulse, cardiomegaly, murmurs, ECG abnormalities Pulmonary: diminished aeration, rales Neurologic: disconjugate gaze, cranial nerve palsies, dysarthria, ataxic or magnetic gait, hyperreflexia Psychiatric: pseudobulbar affect | Complete blood count with differential Comprehensive metabolic panel Erythrocyte sedimentation rate C-reactive protein Morning urine osmolality Morning serum cortisol TSH and free T4 Prolactin, testosterone (males), LH, FSH Vitamin B12, thiamine levels BRAF V600 genotyping |
| Medical history . | Radiological evaluation . | Physical examination . | Laboratory evaluation . |
|---|---|---|---|
| Constitutional: fevers, night sweats, fatigue HEENT: double vision, retro-orbital pain Cardiovascular: dyspnea, orthopnea Pulmonary: dyspnea, cough Musculoskeletal: bone pain Dermatologic: xanthelasma, rash Endocrine: polydipsia/polyuria, gynecomastia, decreased libido Neurologic: ataxia, dysarthria, dysphagia, cognitive decline Psychiatric: depression, disinhibition, inappropriate laughing or crying | All patients CT chest, abdomen, and pelvis PET/CT including distal extremities MRI brain with contrast and detailed examination of the sella turcica Cardiac MRI Selected patients based on symptoms or organ involvement MRI orbit with contrast Renal artery ultrasound High-resolution CT chest Pulmonary function tests Testicular ultrasound Electromyography | HEENT: xanthelasma, exophthalmos Cardiac: hypertension, irregular pulse, cardiomegaly, murmurs, ECG abnormalities Pulmonary: diminished aeration, rales Neurologic: disconjugate gaze, cranial nerve palsies, dysarthria, ataxic or magnetic gait, hyperreflexia Psychiatric: pseudobulbar affect | Complete blood count with differential Comprehensive metabolic panel Erythrocyte sedimentation rate C-reactive protein Morning urine osmolality Morning serum cortisol TSH and free T4 Prolactin, testosterone (males), LH, FSH Vitamin B12, thiamine levels BRAF V600 genotyping |