Concentration of HTTR Amyloidosis Cases Discovered in Romanian Village

According to a story from romania-insider.com, there are a total of 26 known cases of hereditary transthyretin mediated (HTTR) amyloidosis known in the country of Romania. However, 20 of these cases are all centered in the same village and all carry the same mutation: Glu54Gln. The village is known as the Todireşti commune. Although treatment of the disease is costly, Romanian citizens have their treatment covered by the government.

About Amyloidosis

Amyloidosis is a group of diseases which are characterized by the build up amyloid fibrils in body tissue. Amyloid fibrils are a type of abnormal protein. As there are several different types of amyloidosis, the cause can vary. Some forms are acquired while others are linked to genetic factors. HTTR amyloidosis is one variant that is linked to genetic changes. Symptoms of the disease include swelling, heart failure, irregular heartbeat, shortness of breath, fatigue, weight loss, easy bruising and bleeding, stroke, lung problems, enlarged liver, and changes in skin color. Treatment approaches for amyloidosis includes chemotherapy and stem cell transplant; HTTR amyloidosis can be cured with a liver transplant. Prognosis varies depending on the type; HTTR amyloidosis tends to have a better prognosis and prolonged survival. To learn more about amyloidosis, click here.

Many Cases in a Small Region…Why?

Although the origin of the concentration of cases in this region has not been definitively identified, it is likely that the people who have the disease now share a common ancestor from several generations ago. It was in this ancester that that Glu54Gln mutation would have first appeared and caused the disease.

Dr. Daniel Coriu, who directs the Fundeni Clinic Institute’s Hematology and Medullary Transplant Center, has been investigating the prevalence of cases. He is convinced that there are a number of HTTR amyloidosis cases that have yet to be diagnosed, and an extended investigation into the surrounding area could reveal a significantly greater number of cases.

Dr. Coriu also emphasizes that the explanation for the density of cases in such a small geographic area can only be explained by genetics and there is no possibility that the environment could play a factor.


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