Table 1 Screening guidelines
At diagnosis, if not previously obtained | At 1- to 2-year intervals and as needed | As needed depending on symptoms or disease type | Comments | |
|---|---|---|---|---|
Audiology | • | • | ||
Cardiology | ||||
Blood pressure | • | • | ||
Echocardiogram | • | • | Echocardiograms may be performed less frequently in low-risk patients after several years of monitoring | |
Electrocardiogram | • | • | ||
Holter | • | Holter recording depending on the underlying diagnosis and risk of heart block; up to every 3–6 months for disorders associated with high risk of arrhythmias, such as mtDNA deletion disorders | ||
Cardiac MRI | • | |||
Endocrinology | Endocrine screening strongly recommended in those with mtDNA deletion disorders | |||
Basic chemistries | • | • | ||
Calcium (Ca), magnesium (Mg), and phosphate | • | • | ||
Cortisol–ACTH–aldosterone–renin | • | |||
Ca and phosphate, urine | • | • | ||
Gonadotropins | • | |||
Hemoglobin A1c | • | • | ||
Parathyroid hormone | • | • | ||
Thyroid-stimulating hormone and free thyroxine | • | • | ||
Vitamin D | • | • | ||
Dual X-ray Absorptiometry (DXA) | • | DXA especially if unexpected fractures | ||
Gastroenterology | ||||
Amylase–lipase | • | |||
Transaminases | • | • | ||
Stool elastase | • | |||
Swallow evaluation | • | |||
Growth and anthropometric parameters | • | • | Recommended at each visit | |
Hematology | Obtained more routinely in those with high risk of or symptomatic bone marrow dysfunction | |||
Complete blood count with differential | • | • | ||
Iron studies including ferritin | • | |||
Immunology | • | With recurrent infections | ||
Neurology | ||||
Developmental and cognitive assessments | • | • | Clinical appraisal or formal neuropsychological tests; formal testing recommended with regression | |
Electroencephalogram | • | |||
Ophthalmology | ||||
Exam | • | • | ||
Electroretinogram | • | |||
Optical coherence tomography | • | |||
Psychiatry | • | • | ||
Mood and anxiety disorder screening | ||||
Pulmonology | ||||
Pulmonary function | • | Especially with myopathy, if nonambulatory or with brain stem dysfunction | ||
Polysomnogram | • | |||
Renal | ||||
CMP with Mg and phosphate | • | • | ||
Albumin/creatine, urine | • | • |
