Mahvash Disease Case Resolved With Liver Transplantation

By Tara Haelle

Mahvash Disease Case Resolved With Liver Transplantation | MedPage Today

GARD Rare Disease Information - Mahvash disease - National Organization for Rare Disorders (rarediseases.org)

Mahvash disease: an autosomal recessive hereditary pancreatic neuroendocrine tumor syndrome | International Journal of Endocrine Oncology (futuremedicine.com)

    Mahvash Disease is a rare genetic disorder of glucagon signaling characterized by pancreatic alpha-cell hyperplasia and hyperglucagonemia. This article talks about a 27-year-old woman getting a liver transplant who suffered from Mahvash disease which no treatment has been known to be found. Octreotide was used to decrease the glucagon levels. This showed how her getting a new liver wasn't a simple fix that would get her back to normal. I never heard of Mahvash Disease until reading this article. I felt bad that no cure was offered for this rare condition. I believe scientists haven't gotten to it because they tried to find a cure for major diseases like cancer. Mahvash disease only occurs in four cases per million individuals and only a dozen case reports have been found. This disease is known as an autosomal recessive disease which can occur in both males and females. 

Hope for Patients with a Genetic Liver Disease

Science Daily published an article entitled “Liver Transplantation for Patients with Genetic Liver Conditions Has High Survival Rate, Study Finds” by Henrik Petrowsky, F. Charles Brunicardi, Voon Meng Leow, Robert S. Venick, Vatche Agopian, Fady M. Kaldas, Ali Zarrinpar, Daniela Markovic, Sue V. McDiarmid, Johnny C. Hong, Douglas G. Farmer, Jonathan R. Hiatt, and Ronald W. Busuttil. The article reviewed a study done on the survival rates of pediatric and adult recipients of liver transplants who had genetic liver disorders. These patients who suffered from a lethal genetic liver condition faced fibrosis, cirrhosis, and other life threatening conditions without the liver transplants. Both the pediatric and adult patients had high rates of survival at 5 and 20 years after liver transplant surgery. Although, a liver transplants cost over five hundred thousand dollars, it still will save a patient’s life.



I think this article is good news to those who are suffering from a genetic liver disease such as hemochromatosis which causes your body to absorb too much iron from the food you eat. The excess iron is stored in your organs, especially your liver, heart, and pancreas leading to life threatening conditions such as cancer, heart arrhythmias, and cirrhosis.

Article Link: http://www.sciencedaily.com/releases/2013/04/130405155830.htm

http://www.mayoclinic.com/health/liver-problems/DS01133