How is Pompe disease diagnosed?

 

Pompe disease is usually easier to identify in young children because the signs and symptoms are just much more obvious, and often the severity of the situation is much clearer.

In many cases, a chest radiography showing a significantly enlarged heart is an indication to the doctor that there is a serious problem that needs further investigation.

Other emerging signs and symptoms that doctors or parents identify (such as difficulty breathing or slow-developing motor skills), or laboratory results, may lead to a clinical suspicion of Pompe disease.

 

 

In older patients, the path to a correct diagnosis can be extremely frustrating and accompanied by many challenges. Many symptoms of Pompe disease are very similar to symptoms of other, more common diseases. Many doctors have never seen a patient with Pompe disease. This means that doctors often have to exclude other causes before considering a rare disease such as Pompe's disease. Sometimes patients mainly have respiratory complaints and they can be due to a number of illnesses. In other cases, muscle relaxation is the first symptom without the patient experiencing shortness of breath. Common misdiagnoses include pelvic girdle dystrophy or Duchenne's disease and polymyositis, an inflammatory myopathy. [1, 2]

 

 

 

Laboratory tests

As soon as a doctor notices a suspicious group of clinical symptoms, one of the first diagnostic steps is often a blood test that is used, among other things, to measure the concentration of the enzyme creatine kinase (CK). The body releases more CK when there is a muscle injury. If the blood test shows that there is a high concentration of CK - which often occurs in patients with Pompe disease [3] but does not provide an unambiguous indication as this can indicate a whole range of different problems - then the doctors usually start a diagnosis procedure more specific to the disease. Currently, the most accurate and definitive diagnosis method is an enzyme activity test.blood. [3]

 

References

  1.  Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  2.   King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Beschikbaar op http://www.emedicine.com/pmr/topic2.htm. Geraadpleegd op 7 november 2002.
  3.  Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.