The Medical Mystery: Can you solve the case of a young man with stabbing abdominal pain and an unusual family cancer history?
The Diagnosis column of The New York Times Magazine regularly asks Well readers to sift through a difficult case and solve a diagnostic riddle. This week, you’ll find a summary of a case that is more complicated than it may seem at first look. The lab results and images obtained by the patient’s primary care doctor will provide you with the same information as those who originally solved this medical mystery. The first reader to figure out this case gets a signed copy of my book “Every Patient Tells a Story,” along with the satisfaction of knowing you could give Gregory House a run for his money. Let’s get started.
The Presenting Problem:
A healthy 29-year-old man wakes up with excruciating pain in the lower right side of his abdomen.
The Patient’s Story:
The pain was like a knife through his side. The young man lay in bed and tried not to move. Even breathing seemed to push the invisible dagger deeper into his bowels. He’d had this pain off and on for a couple of years, but it had never been anywhere near this bad. He usually chalked it up to nerves, and this episode seemed to fit that bill: He was supposed to start a new job the next day.
The pain eventually eased a bit, but he had to move very carefully. A thoughtless twist or turn could bring tears to his eyes. He made his way to the bathroom and turned on the shower. The hot water helped him relax, and that felt better, but he still couldn’t bend at the waist without gasping at the stab in his belly.
Slowly, over the next several hours, he began to feel better. And the next day, he was able to start his new position — as a doctor, training for a specialty in cancer at the Mayo Clinic.
Although the young man felt comfortable with his own diagnosis of stomach jitters, his wife — also a doctor — did not. At her insistence he made an appointment with the primary care doctor he’d been assigned at the Mayo Clinic.
The Doctor’s Exam:
When Dr. Eric Tangalos met his new patient, his first impression was that he was a pretty healthy guy. Tall and slender, he had a ready smile and an earnest, easygoing manner. When Dr. Tangalos asked him what had brought him in that day, the young man said that he’d simply come in for a routine physical exam, but he had a few issues he wanted to discuss.
First, a year ago he had a blood test — just routine stuff — and it showed that he had too much calcium in his system. That finding was interesting, because his father had a problem with high calcium levels, too. He had tried to drink less milk since getting the test result to see if that brought his calcium levels down.
Also, he had some red spots on his nose that were bothersome and unattractive. A dermatologist had told him that these bumps were something known as angiofibromas and that they were usually seen in people with a genetic disorder that caused mental retardation. The patient had already finished medical school at the time, and the specialist had joked that he wasn’t at all concerned that the young man had that disease. He’d advised the patient not to worry about them. Still, the patient didn’t like these strange spots, and he was getting more of them each year.
Finally he mentioned that he had this intermittent abdominal pain that had gotten pretty severe a few weeks earlier. He hadn’t lost any weight and didn’t have diarrhea or blood in his stools, and the pain rarely interfered with his activities.
Otherwise he had no significant medical history. He’d never been in the hospital, was rarely sick and had never even broken a bone. He was married and had a daughter who was 2. His mother was alive and well; his father had died of lung cancer when he was 14. His father’s brother had also died young — he had a tumor of the pituitary gland. The patient didn’t smoke, and he drank occasionally. He was physically very active.
On exam, the only abnormality Dr. Tangalos noted — besides the little bumps on his nose — was a large mole on his upper back. He would send the young doctor to a dermatologist to take a look at these various bumps. And he ordered some tests to figure out why his calcium was high.
Possible diagnoses:
Cancer: Metastatic spread of the cancer to the bone can cause the level of calcium in the blood to rise. It wouldn’t really explain the recurring abdominal pain. Nor could a cancer diagnosis explain the lesions on the patient’s nose.
Vitamin D intoxication: Calcium increases when there is too much vitamin D around (usually a result of taking too many vitamin D supplements). Vitamin D regulates how much calcium is absorbed from the diet. But that diagnosis wouldn’t necessarily explain the abdominal pain or lesions either.
Sarcoidosis: A disease in which immune system cells cluster to form lumps called granulomas (gran-yu-LO-mas) in various organs. These granulomas create too much activated vitamin D, which in turn causes the absorption of excessive amounts of calcium.
Familial hypocalciuric hypercalcemia: An inherited inability to get rid of calcium in the urine. It’s rare but will cause high calcium levels, or hypercalcemia. It rarely causes any other symptoms.
Hyperthyroidism: Thyroid hormone causes the release of calcium from bones. Too much thyroid hormone often causes the release of too much calcium, causing hypercalcemia and osteoporosis.
Hyperparathyroidism: The parathyroid gland is involved in regulating the amount of calcium in the blood.
Lab Results:
The results came back within a few days. They were mostly normal. The only abnormality was that an enzyme found in liver and bone — called alkaline phosphatase — was slightly low. You can view them here (click on the box in the lower left to expand).
X-Ray Results:
Some diseases that cause high calcium levels can be detected on X-ray. The patient’s X-ray results were normal.
The Challenge:
The patient’s story and his test results contain the clues that led to this patient’s diagnosis. Can you figure out what this healthy-looking young man has? Here’s a hint: There is a simple diagnosis, but you’ll need a second diagnosis to explain it all.
Tomorrow, I will post the answer and tell you what happened to this patient.
Rules and Regulations: Post your complete diagnosis in the Comments section below. The correct answer will appear tomorrow on Well. The winner will be contacted. Select reader comments may also appear in a coming issue of The New York Times Magazine.
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