Patients with Mitochondrial Disease Are Having a Hard Time Getting Diagnosed

A recent story from Science Daily is highlighting just how difficult it can be for patients with rare diseases to get an accurate diagnosis. For patients with mitochondrial disease, the situations seems to be substantially worse. A recent analysis concluded that, on average, mitochondrial disease patients see over eight different doctors, are often subject to multiple tests, and frequently receive multiple misdiagnoses before the truth is revealed.

Mitochondrial disease refers to any illness that is caused by a dysfunction of the mitochondria, an essential organelle that is found in nearly all cells in the human body, aside from red blood cells. The mitochondria is very important for cell function because it is responsible for generating energy. Mitochondrial disease is caused by genetic mutations. To learn more about mitochondrial diseases, click here.

Mitochondrial diseases can be severely debilitating for the sufferer, so even brief delays in diagnosis can mean major differences in treatment outcomes and the quality of life for the patient. At this juncture, it is estimated that around 75,000 people in the U.S. have a mitochondrial disease. The survey sampled a group of 210 patients. Around 55 percent of this group said that they were misdiagnosed at some point, and 32 percent had been misdiagnosed multiple times.

The results indicate just how tumultuous the diagnostic process can be for rare disease patients. The study also reported the extensive degree of testing that is often part of the process, including genetic tests, brain MRIs, muscles biopsies, and blood tests. These tests can also be painful and invasive as the patient’s condition continues to worsen throughout. Another issue is the vast array of symptoms that mitochondrial diseases can cause. These symptoms are non-specific in many cases and can mimic more common health problems. Many doctors are not well-informed about mitochondrial disease, so often they try to link the symptoms to a more common diagnosis.

Clearly, mitochondrial disease needs more specific diagnostic specifications, and the need for a new standard has been made evident by the survey. The need for better clinical training and overall awareness of this illness is also apparent. Hopefully, new advances will make mitochondrial diseases easier to identify in the future.


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