When Rare Diseases and Common Diseases Converge to Same Clinical Picture

In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases. In yesterday's blog, we discussed by a rare disease and a common disease may both have the same clinical presentation, a phenomenon that I call disease convergence. The short explanation for disease convergence is that there are a limited number of ways that the body can respond to malfunctions. Here is an excerpt from Chapter 10, in which disease convergence is discussed: Hypertension is another excellent example of convergence toward a common phenotype. As discussed in Section 5.4, there are numerous genetic and environmental causes of hypertension. The causes of hypertension may include overactivity of the renin–angiotensin system, or channel defects at various sites of the renal tubule, or arterial wall pathology, or increased salt consumption. Regardless of the underlying cause of hypertension, all inherited and acquired forms of the disease converge onto one physiologic pathway: increased net salt balance leading to increased intravascular volume, leading to augmented cardiac output, leading to elevated blood pressure [8]. Regardless of the underlying mechanism leading to an individual’s hypertension, diuretics such as hydrochlorothiazide or furosemide, which reduce the reabsorption of s...
Source: Specified Life - Category: Pathologists Tags: common diseases complex diseases convergence disease convergence disease pathway disease phenotype genetic disease rare disease models of common diseases Source Type: blogs