Thrombosis and cerebral hemorrhage caused by protein C deficiency
By Alfredo Arango Medical Editor
The belief that a lack of Vitamin C is linked to the common and bothersome cold is widespread; however, it is little known that a deficiency of Protein C can cause much greater illnesses, for example, thrombosis and cerebral hemorrhages. Such was the recent case of a young North American tourist in the Caribbean.
Steven Hill, 33 years old, was enjoying paradisiacal vacations in Jamaica together with his wife, Tanya, when he woke up one morning feeling ill and experiencing pain in his right arm. Suddenly, he collapsed and had convulsions, requiring calling an ambulance. Thus began a race against time to save his life.
At the first hospital he was taken to, Steven experienced more convulsions; his condition deteriorating rapidly. He was transferred to a larger hospital in Montego Bay, where a CAT scan could be performed. This scan showed clearly that the patient had a massive cerebral hemorrhage. The bleeding had already paralyzed the entire right side of the body. His condition was critical and progressively deteriorating, increasing the possibility that he would die. Steven had to be taken to the United States on an emergency basis and treated at a hospital that had high technology resources to manage serious cerebral bleeding.
At midnight, Steven, who was already unconscious, and with his wife beside him, was airlifted to the Aventura Hospital and Medical Center, in North Miami Dade County, in Florida.
"We didn't realize how serious his condition was until the next morning, when doctors shared with us that Steven's case was 'extremely critical,' with every passing minute more precarious than the next," said Tanya.
Due in part to an inherited rare blood condition known as Protein C Deficiency, Steven had developed what is called a Cerebral Venous Sinus Thrombosis (CVST). CVST is a rare syndrome in which the dural venous sinuses, the main veins which drain blood from the brain, are blocked by a blood clot. This meant that blood could not circulate through his brain, and it could not drain back to his heart. The consequence was not only lack of brain oxygenation, but also accumulation of pressure within the brain that caused bleeding in the brain tissue as well. The combination of these events creates a type of stroke in which the brain both bleeds and blocks at the same time. This is called Venous Stroke.
Steven's life depended on the physicians' ability to relieve the swelling of his brain, somehow stop the bleeding on his brain, dissolve or remove the occluding clot in the dural venous sinuses, and at the same time thin his blood in order to prevent further clotting. This procedure seems simple but different specialists were needed to apply it successfully: Jeffrey Levy, M.D., an intensive critical care specialist; Floyd Osterman, M.D., an interventional radiologist; and Santiago Figuereo, M.D., a board certified neurological surgeon and medical director of the Miami Neurological Institute. Dr. Levy's intensive treatment included thinning Steven's blood to prevent further clotting, while Dr. Osterman used an interventional procedure to remove some of the clot in the dural sinuses through special catheters.
Dr. Figuereo then decided to take Steven to the operating room to perform a life-saving but highly risky procedure. A hemicraniectomy was performed to remove a piece of his skull so that his brain could swell without restriction. Then, Steven's sinuses were cut open to allow cleaning of the remaining clots and restoration of the blood flow. With the cerebral blood circulation restored, the sinuses were stitched closed and the piece of skull was saved into Steven's abdomen. Once the brain swelling subsided, his skull was reattached.
"To say that Steven's condition was critical is an understatement," said Dr. Figuereo. "Bleeding caused brain damage that affected Steven's speech and ability to move the right side of his body. Each day, though, he showed signs of recovery - better than expected."
"Patients like Steven are the reason we are here. There is no better reward than to save a life and bring hope to patients and families," said Heather J. Rohan, CEO of Aventura Hospital and Medical Center.
Steven continues to face a rigorous weekly regimen of physical, occupational and speech therapy as well as regular doctor's visits and ongoing medical procedures. Still, the outlook is bright, the specialists assure.
Steven's mother and sister also have Protein C Deficiency. They expressed their intention of sharing Steven's story, so others with the condition know what the risks are.
PROTEIN C
As explained in a medical article written by Doctors Salwa Khan and Joseph Dickerman, the main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII. There are two main types of protein C mutations that lead to protein C deficiency. "Thrombophilia can be defined as a predisposition to form clots inappropriately," they say.
Primary prophylaxis with aspirin, heparin or warfarin is often considered in known familial cases. Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause.
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