The inferior mesenteric vein is a critical blood vessel carrying blood from the large intestine to the liver. When this vein is blocked by a blood clot, blood circulation stops, depriving the intestine of oxygen and leading to necrosis. This condition often progresses rapidly, causing severe abdominal pain, distension, vomiting, and can be life-threatening without prompt surgery.

The man's condition was initially misdiagnosed as "idiopathic," meaning the cause was unknown. Consequently, he underwent multiple surgeries without addressing the root cause, leading to recurring issues.

During his visit to Medlatec General Hospital, the patient was examined by Dr. Nguyen Quang Minh, head of the cardiology department. After a thorough review of his medical history and previous surgeries, Dr. Minh suspected a hereditary thrombophilia (a genetic blood clotting disorder).

Genetic testing confirmed Dr. Minh’s suspicions, revealing heterozygous mutations in the MTHFR A1298C and PAI-1/Serpine 1 genes. These genes are associated with homocysteine metabolism disorders and inhibition of fibrinolysis, increasing the risk of chronic venous blood clots.

The combination of these two mutations kept the patient in a constant, underlying pro-thrombotic state, without typical warning signs like atrial fibrillation, cancer, or antiphospholipid syndrome. According to Dr. Minh, this was the silent culprit behind the blocked inferior mesenteric vein and the seven colon surgeries over the past three years.

The man underwent seven surgeries for colon necrosis. *Photo: Hospital provided*

The patient is now on anticoagulants to prevent further blood clots and is undergoing regular checkups. Dr. Minh highlighted this case as a prime example of the power of precision medicine. In many cases of unexplained recurrent thrombosis, genetic testing is key to uncovering hidden causes and developing effective preventative treatment strategies.

Le Nga