A remarkable example of how the diagnostic delay in rare diseases impacts life expectancy can be found in the USA Fabry Disease Register Analysis. Fabry disease is a rare, X-linked metabolic disorder caused by insufﬁcient activity of the lysosomal enzyme alpha -galactosidase A. This leads to the progressive accumulation of glycolipids with terminal alpha-galactosidic linkages in different tissues and eventually impairs organ function.
The early symptoms of Fabry disease are neuropathic pain in the extremities, hypohydrosis and gastrointestinal symptoms such as abdominal pain and food intolerance. Among male patients, it typically begins during childhood. Later in life, many patients develop life-threatening disease manifestations, including chronic renal disease, cardiovascular disease, and strokes.
Because males with Fabry disease have only one X chromosome in which the affected gene is found, their life expectancy is considerably shortened. Before renal dialysis and renal transplants became widely available, the average age of death amongst males with Fabry disease was reported as 41–42 year.
Despite the increased availability of renal replacement therapy over the past several decades has extended the life span of Fabry patients, it continues to be shorter than average. According to the USA Fabry Registry, the life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general US population. But what was even more remarkable, is that 75 male patients (about 5%) from the registry that died due to the illness, were diagnosed at a much older age. The median age at their diagnosis was 40 vs. 24 years in survived males.
In my previous blog, we have seen that the lifespan of a diagnosed patient directly affects the disease's prevalence. Therefore, acceleration of the diagnostic process is the key to changing the way we look at orphan diseases. The sooner the patient is diagnosed, the longer they live. That increases the prevalence of the disease in the population. Amazingly, this can change the prevalence to an extant where some diseases will no longer fall into the "rare disease" category. It’s crucial in order to change policies of health systems and industries like pharma towards these patients. That implies there is a true need for a new diagnostic technique that will speed up the diagnosis of rare disease patients.
After years of research, I have developed a web-based diagnostic method for physicians that will shorten the diagnostic process of orphan illnesses. NDC Medicine is an online diagnosis platform for doctors worldwide solving challenging cases. It is based on a combination of collective intelligence and AI techniques.
In my next blog I will uncover how the common diagnostic method of physicians is inevitably failing rare diagnostics, and why a new collaborative method is the key to succeed in accelerating the diagnostic process.