Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

FLOC/RN Team Assessment

History and Physical Exam

Mitochondrial diseases present with a wide range of clinical symptoms. Organs and tissues with high energy requirements such as the brain, heart and skeletal muscles are commonly affected. Patients may present with an isolated myopathy, encephalopathy or most commonly, with multisystem organ symptoms.

These patients are at a high risk of rapid progression; patients presenting with respiratory failure, stroke/seizures, and/or metabolic acidosis require close monitoring. Patients often present with symptoms during times of physiologic stress, such as infectious illness or surgery/perioperative period.

Remember that patients with mitochondrial disorders suffer from the same illnesses as other patients. Therefore, develop the differential diagnosis based on the clinical presentation, and not solely with special attention to the mitochondrial diagnosis.

History

HPI	Common Physiological Stressors	Fever, infection Surgery/Anesthesia Trauma Dehydration Fasting (including NPO for surgery)
	Cardiovascular (Heart Failure, Dysrhythmia)	Increased fatigue Anorexia Dyspnea Chest pain, palpitations Peripheral Edema Previous hx WPW or cardiomyopathy Presence of pacemaker
	Respiratory	Dysphagia, drooling Abnormal respirations Apnea CPAP/BiPAP/O₂ use at home Trach/vent
	GI PO Intake	Inadequate volume, calories, feeding intolerance, weight loss Dysphagia, drooling Anorexia, vomiting, diarrhea, urine output Constipation, history of dysmotility Jaundice Hx pancreatic insufficiency, steatorrhea
	Neurologic	Symptoms suggestive of metabolic stroke/seizure Increased weakness Unilateral weakness or sensory change Vision loss, double vision Speech difficulty, change in breathing, swallowing Dizziness or trouble walking, ataxia New onset seizures with focal findings Development of EPC or worsening of underlying seizures Status epilepticus (do not give VPA) Headache (do not give VPA) Neuroregression Altered MS (change from baseline)
	Dysautonomia	Flushing, palpitations, HR and BP fluctuations Sweating, heat/cold intolerance Raynauds/peripheral edema/discolored extremities Fever without identified cause PAID (paroxysmal autonomic instability with dystonia)
	Musculoskeletal	Muscle cramping, weakness, tetany Hx of rhabdomyolysis Bone fractures (non-wearing bearing/osteopenia)
	Skin	Jaundice, bruising
	Renal	Renal tubular acidosis, anuria, dependent edema
	Endocrine	Diabetes mellitus, hypoparathyroidism, hypoglycemia, adrenal insufficiency, hypothyroidism
PMH	Medications Current medical problems Past hospitalizations Medication, food allergies, ketogenic diet

Physical Examination

General	Altered MS, changes from baseline Full VS, pulse oximetry, changes in weight
CV	Arrhythmia, Heart Failure signs
Respiratory	Gag, drooling, quality of respirations Abnormal Breathing patterns (Kussmaul, Cheyne-Stokes)
Abdomen	Hepatomegaly, abdominal tenderness/bloating
Back/Renal	Flank tenderness (nephrolithiasis)
MSK	Bone fracture (osteopenia and rickets); Tetany – Trousseau, Chvostek’s Sign
Neurologic	Neuroregression Focal neurologic signs suggesting possible stroke-like episode Seizure, altered mental status
Skin	Diaphoresis, flushing, bruising, jaundice, pressure ulcers
Infection	Complete exam for infectious cause of decompensation

If you have questions about any of the clinical pathways or about the process of creating a clinical pathway, please contact us.

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The clinical pathways are based upon publicly available medical evidence and/or a consensus of medical practitioners at The Children’s Hospital of Philadelphia (“CHOP”) and are current at the time of publication. These clinical pathways are intended to be a guide for practitioners and may need to be adapted for each specific patient based on the practitioner’s professional judgment, consideration of any unique circumstances, the needs of each patient and their family, and/or the availability of various resources at the health care institution where the patient is located.

Accordingly, these clinical pathways are not intended to constitute medical advice or treatment, or to create a doctor-patient relationship between/among The Children’s Hospital of Philadelphia (“CHOP”), its physicians and the individual patients in question. CHOP does not represent or warrant that the clinical pathways are in every respect accurate or complete, or that one or more of them apply to a particular patient or medical condition. CHOP is not responsible for any errors or omissions in the clinical pathways, or for any outcomes a patient might experience where a clinician consulted one or more such pathways in connection with providing care for that patient.

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