Sabtu, 15 Maret 2008

CLAMMY AND WEAK LIKE A HEART ATTACK THE MAN WITH THE ELEVATED CARDIAC ENZYMES NEEDED A MEDICAL DETECTIVE TO FIND OUT WHAT HIS HEART ATTACK REALLY WAS

CLAMMY AND WEAK LIKE A HEART ATTACK THE MAN WITH THE ELEVATED CARDIAC ENZYMES NEEDED A MEDICAL DETECTIVE TO FIND OUT WHAT HIS HEART ATTACK REALLY WAS







I read a fascinating story about a man in his early forties who had severe chest pain and all the signs of a heart attack. How can you tell if the chest pain is from a heart attack? YOU CAN'T. IF you have Chest Pain CALL 911 IMMEDIATELY for an ambulance. Let the doctors decide. Time is critical and it's better to err on the side of caution. Anyway,it's a big problem. You don't want to miss a heart attack but it turns out that many times chest pain can be due to another cause. This man was sweating and clammy and weak. He even had elevated blood cardiac enzymes like a heart attack. Many people think a normal electrocardiogram EKG means you don't have a heart attack. But you can have a heart attack or cardiac problem even with a normal EKG. Doctors look for chemicals, cardiac enzymes in the blood for evidence of heart muscle damage. This man did have elevated chemicals in the blood. It took a medical detective to figure out what the man with chest pain really had. It was not a heart attack but something much more mysterious. It turned out the answer was in his urine!




"When Decter (the doctor) heard that, something stirred in his memory. Cola-colored urine. Perhaps this was the key. Had he had this kind of dark urine since then? he asked. The patient told him that a couple of times a month his urine would turn brown and he’d feel achy all over. It happened whenever he was sick or tired or when he exercised too hard. He’d told lots of doctors about it, but none of them could figure out what was going on".























"Decter knew he was on to something. Urine that dark is usually caused by muscle breakdown. When muscle cells are damaged, they leak CPK,( there are fractions of CPK that are more specific for heart muscle. There is also another chemical called troponin for heart muscle) but they also spill several other chemicals. One of them, the compound that gives skeletal muscle its distinctive deep red hue (myoglobin), can turn urine a dark brown. Were the brown urine and the elevated CPK caused by the same problem? Were they both signs of some longstanding disease process that was destroying this patient’s muscle"?



"Decter sent his patient to Dr. Alfred E. Slonim, a pediatric endocrinologist by training who spent his career investigating diseases of the muscle. The patient called Decter after seeing the specialist, almost speechless with excitement. Slonim spent more than an hour with him and his wife, getting the history of his strange illness. “Tell him about what happens on Yom Kippur,” his wife prompted near the end of the interview. Every year on the Jewish day of atonement, the patient would fast for a day, from sunset to sunset. And every year, he would spend the day after Yom Kippur in bed, crippled by an aching in his muscles and passing dark brown urine. Once he said that, Slonim had the diagnosis:".




He had a genetic condition called carnitine palmitoyltransferase II deficiency. Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. People with this disorder have a faulty enzyme that disrupts carnitine's role in processing long-chain fatty acids.



The myopathic form is the most frequent and typically the least severe form of carnitine palmitoyltransferase II deficiency. It has a variable age of onset and is characterized by recurrent episodes of muscle pain (myalgia) and weakness. This condition is sometimes associated with the abnormal breakdown of an oxygen-binding muscle protein called myoglobin (myoglobinuria) so that the protein winds up in the urine or the breakdown of muscle tissue (rhabdomyolysis). Rarely, myoglobinuria can result in kidney failure.

  • When Is a Heart Attack Not a Heart Attack?
  • Carnitine palmitoyltransferase II deficiency
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