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Wie wird Morbus Pompe diagnostiziert?

von NFI Redaktion

Diagnosing Pompe disease can be challenging due to its rarity, affecting only about 1 in 40,000 people in the United States. „It’s really not on the radar of most pediatricians,“ says Gerard Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh. Some of the symptoms of Pompe disease, such as muscle weakness and breathing problems, can also be signs of other more common conditions. The condition varies in each individual, with symptoms presenting at any age from infancy to adulthood.

Advancements in newborn screening have made diagnosing infants with Pompe disease easier, even those with milder forms of the disease. This means more infants can receive life-saving treatment immediately. However, some individuals with Pompe disease undergo a diagnostic odyssey that can last for years before receiving a correct diagnosis, according to Christina Grant, MD, PhD, Co-Director of the Lysosomal Storage and Treatment Program at Children’s National Hospital in Washington, D.C.

When a baby is born, they undergo newborn screening which involves taking blood from the heel. The diseases screened for in newborns vary from state to state, with at least 20 states now testing for Pompe disease including New York, Massachusetts, and California. Your pediatrician or state screening program may contact you if your baby’s results are outside the normal range, but this does not necessarily mean your baby has the disease. Further blood tests by a geneticist will confirm the diagnosis if needed.

Before birth, it’s advisable to check if your state includes Pompe disease in newborn screenings. If not, you can inquire with the hospital if the test can still be performed. „It’s an important diagnosis, as it is one of the few conditions that can be diagnosed at birth and where immediate treatment is possible,“ says Vockley.

If your baby tests positive for Pompe disease, it doesn’t necessarily mean they have a severe form of the disease. „Some of these children develop symptoms much later in life, and some are so mild that they would have never been diagnosed otherwise,“ says Grant. If your baby tests positive but shows no signs of heart, muscle, or organ damage, they may only require close monitoring. If Pompe disease runs in your family, you can undergo prenatal testing before your baby is born to confirm the diagnosis.

If your baby is not tested for Pompe disease as part of newborn screening, the diagnosis may come later when you notice something is amiss. Early signs in the first year of a baby’s life include failure to gain weight, feeding difficulties, poor muscle tone, breathing issues, enlarged tongue, resting legs in a frog position, frequent respiratory infections, enlarged liver, hearing problems, and delayed motor skills.

Late-onset Pompe disease tends to be milder, occurring in childhood or adulthood. Warning signs include muscle weakness, especially in the trunk, shoulders, and legs, breathing difficulties, poor balance, curved spine, chewing and swallowing problems, and drooping eyelids.

If you or your child exhibit such symptoms, your doctor will conduct a thorough examination, gather detailed health and family history, and rule out other more common conditions. If Pompe disease is suspected, various tests may be carried out, including the analysis of the enzyme acid alpha-glucosidase, which can be done through blood work or skin biopsy.

Other tests your doctor may conduct to identify potential issues caused by Pompe disease include heart tests, respiratory tests, muscle tests, and sleep studies. Depending on the test results and severity of symptoms, your doctor may recommend starting enzyme replacement therapy (ERT) immediately. Treatment for Pompe disease may involve a team of specialists, including metabolic specialists, neurologists, cardiologists, pulmonologists, orthopedists, physical therapists, occupational therapists, and speech therapists.

You or your child may also undergo genetic testing to confirm the diagnosis by looking for mutations in the gene that controls the enzyme responsible for Pompe disease. Genetic testing can identify carriers of the disease as well. Additional tests may be conducted to determine specific issues related to Pompe disease, such as heart, respiratory, and muscle function tests.

According to experts, some individuals who test positive for Pompe disease genetically may never exhibit signs of the disease. „We now see women referred to us during pregnancy who never showed symptoms but tested positive for the disease during carrier screening,“ says Grant. These women undergo annual blood tests to monitor changes that may necessitate ERT but do not present abnormal blood or muscle test results associated with the disease.

This knowledge is reassuring for both pediatric and adult patients, as they do not feel that a diagnosis of Pompe disease is a death sentence,“ says Grant.

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