Authors

Héctor Nafría Soria1, Rocío Campos del Portillo2, José Moreno-España3

Position

1Enfermero. Hospital Universitario Puerta de Hierro-Majadahonda. Madrid2Licenciada en Medicina. Especialista en Endocrinología. Hospital Universitario Puerta de Hierro-Majadahonda. Madrid3Licenciado en Medicina. Especialista en Psiquiatría

Contact address

Héctor Nafría Soria. C/ Arroyo del Opañel, 30. 28019 Madrid.

Contact email: hectornaf@hotmail.com

Abstract

Glycogen storage disease type V or McArdle disease has a prevalence of 1 per 167 thousand persons; it is characterized by the inability to break down muscle glycogen. The main symptom is exercise intolerance, shown by fatigue, muscle weakness, myalgia, dyspnea and tachycardia, with potential rhabdomyolisis. Patients affected by this disease present a pathognomonic phenomenon called “second wind”. There is little evidence regarding the treatment of this disease. Some studies point at the potential benefit of ketogenic diet (KD).
We present a case report of a 38-year-old male patient diagnosed with McArdle disease who decided on his own to follow a KD during one month.
Nursing assessment was conducted according to the 14 Needs by Virginia Henderson, and the nursing diagnoses Willingness to improve the management of his own health and Fatigue were identified, as well as potential complications: rhabdomyolisis and hepatic profile alteration.
It was objectively observed that there was a significant reduction in the values of muscle enzymes, and the “second wind” phenomenon disappeared completely; this supports the beneficial effect of KD in these subjects. In this case, the patient had to make a decision outside treatment recommendations. Patient empowerment enables them to choose adequately among the different treatment options available.

Keywords:

Glycogen storage disease type V; McArdle disease; ketogenic diet; rare diseases; empowerment; case report

Versión en Español

Título:

Beneficios de la dieta cetogénica en la enfermedad de McArdle: empoderando a un paciente