Pompe Disease: Causes, Symptoms, and Treatment

What is Pompe Disease?

Pompe disease occurs when the body cannot produce the enzyme that is required for the breakup of glycogen to release energy. This leads to excess build-up of sugar damaging the cells, muscles, and organs. Pompe disease is also popularly known as Glycogen Storage Disease or GAA Deficiency.

Symptoms of Pompe Disease

Pompe Disease symptoms can vary from person to person and are usually inherited from the ancestors. Some of the main identifying symptoms are:

• Trouble in breathing
• Eating difficulty
• Not gaining enough weight
• Lung infections
• Heart defects
• Enlarged tongue
• Enlarged liver
• Weakness in muscles
• Stiff and painful joints
• Frequent headaches
• Fatigue
• Difficulty in hearing

Diagnosis of Pompe Disease

A detailed diagnosis is done before deciding the treatment of pompe disease. Most commonly, a blood sample is procured and a detailed study of the enzymes present in blood is done. Additionally, the doctor may also perform sleep studies, electromyography, and breathing tests based on the symptoms the patient experiences.

Once the enzymes in the blood is studied, a confirmation is done through DNA testing. Other common tests include:

• Pulmonary function tests
• Electrocardiogram and echocardiogram
• Prenatal diagnosis for pregnant women
• Noting down patient history and family genetic history

These tests are mainly performed to diagnose the genetic disorder causing pompe disease, the check how the bad protein is working, and to check how much glycogen is present in the muscles.

The duration of diagnosis can vary in babies and adults. It takes nearly 3 months to diagnose and confirm pompe disease in babies, while it can take a year to properly diagnose and confirm pompe disease in adults.

Treatment of Pompe Disease

Medications and Enzyme replacement therapy are the only effective treatment for Pompe disease.

#1.  Medications

Once diagnosed with pompe disease, your doctors will prescribe 2 medications- Lumizyme and Monozyme, which help the body process and break down the complex sugar correctly. These enzymes are usually injected directly into the blood stream.

#2. Enzyme Replacement Therapy

Enzyme replacement therapy is the permanent solution for the treatment of Pompe disease. A genetically engineered drug enzyme of Alfa glucosidase called alglucosidase alfa is administered intravenously. This enzyme works like a replica of the original enzyme and helps the body break down complex sugar efficiently.

Pompe disease if left undetected and untreated can prove fatal. Early detection and treatment will help effectively manage pompe disease. Managing pompe disease can get challenging. Apart from treatment it’s also advised to talk to a counsellor who will support you and brace you with practical and handy tips to manage this disease.

References:

1. https://www.webmd.com/a-to-z-guides/pompe-disease#1
2. https://my.clevelandclinic.org/health/diseases/15808-pompe-disease