Neutral lipid storage disease with myopathy

Overview

A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.

Symptoms

* Scaly skin * Degeneration of muscles * Lipid deposits in white blood cells * Red skin * Itchy skin * Dry skin * Enlarged liver * Fatty deposits in liver * Ataxia

Diagnosis

* High Cholesterol: Home Testing: o Home Cholesterol Tests o Home Triglycerides Tests o Home Blood Pressure Tests * High Blood Pressure: Home Testing o Home Blood Pressure Monitors o Home Heart Tests * Heart Health: Home Testing: o Heart Rate Monitors o Irregular Heartbeat Detection o Heart Electrocardiogram (ECG)

Treatment

Teach the patient proper skin care, and suggest lubricating baths and emollients. Instruct him not to use hot water to bathe or shower.

Resources

Neutral lipid storage myopathy: Another name for Triglyceride storage disease with impaired long-chain fatty acid oxidation