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Aurora magazine

Thousands of mitochondrial diseases remain without diagnosis

Those suffering from mitochondrial diseases often remain without diagnosis for years. A study by Columbia University Irving Medical Center documents the difficulties of these patients. It is estimated that in fact about 75,000 Americans live with these genetic diseases. Nevertheless, many of them do not know the source of the problems that afflict them.

The researchers interviewed 210 patients with mitochondrial diseases. On average, subjects had to consult 8 different doctors before being diagnosed. Many of them have performed diagnostic tests of various kinds, from blood tests to biopsies. More than half of the participants - 55% - reported having received a wrong diagnosis. Almost a third - 32% - received two or more misdiagnoses, such as:

  • 13% a psychiatric disorder;
  • 12% fibromyalgia;
  • 9% chronic fatigue syndrome;
  • 8% multiple sclerosis.

The study showed how difficult it is to diagnose mitochondrial diseases. The road that leads to the truth is for many riddled with wrong and conflicting diagnoses, questions and different doctors. For this reason, Michio Hirano, principal author of the study, decided to document everything.

The study participants reported in all over 800 different symptoms. The most common is the chronic weakness, reported by about 62% of people. Followed by permanent fatigue (56%), difficulty walking (39%), falling eyelids (33%) and lack of coordination (32%). The variety of symptoms gave rise to the large number of misdiagnoses mentioned above.

The difficulties in finding a correct diagnosis are largely the result of a variegated symptomatology. Many primary care physicians are not used to dealing with the symptoms of a rare genetic disease. This leads them to confuse them with something else and to give the wrong diagnosis, even if in good faith. This indicates the need for new standard tools to facilitate the diagnosis of certain diseases.