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 | • | • |
ACTH, adrenocorticotropic hormone; CMP, comprehensive metabolic panel; DXA, dual-energy X-ray; MRI, magnetic resonance imaging; mtDNA, mitochondrial DNA.