I was referred a 65 year old white female who on bone mineral density analysis was found to be osteopenic and had a history of 2” height loss. She entered menarche at the age of 13 and had regular periods until menopause at the age of 52. She was on hormone replacement therapy and developed breast cancer at the age of 61. She underwent lumpectomy and radiation therapy, and initially was put on tamoxifen and placed on an aromatase inhibitor for the past four years. She has limited her calcium intake because of concerns about vascular calcification and kidney stones. There was no previous history of premature graying (which can increase risk of having osteopenia and osteoporosis) nor was there a history of kidney stones. On physical exam, she was a healthy appearing woman who appeared younger than her stated age in no acute distress. When I asked her about joint flexibility, she said she had an extremely flexible finger. On physical exam, she had doughy-textured skin with increased elasticity. There was increased flexibility of her finger joints. Pressing on her sternum caused significant discomfort. This was also found when pressing on the front part of her lower leg bone (tibia).The rest of the physical exam was not contributory.
I reviewed with her the need to increase her calcium intake. The recommendation for all men and women over the age of 50 years is 1,200 milligrams/d from diet and/or supplements taken in either two or three divided doses. I also explained to her that taking the calcium supplement with a meal will help its absorption especially if she is achlorhydric (unable to make stomach acid).
Based on the history and physical examination findings, it was likely that she is suffering from Ehlers Danlos syndrome which is a genetic disease that is often due to a defect in the cross linking of collagen throughout the body. This is the reason why these patients often have increased flexibility of their joints and consider themselves to be double jointed. We observed in patients with Ehlers Danlos syndrome that they can have low bone density most likely because the mineralization of the skeleton is altered due to the decrease in the structural strength of the collagen. In addition, the physical exam findings of tenderness of sternum and anterior tibia with moderate applied pressure, is consistent with osteomalacia most likely caused by vitamin D deficiency. As a result, the patient was placed on 50,000 IU of vitamin D once a week for eight weeks to fill the empty vitamin D tank and then I placed her on 50,000 IU of vitamin D2 every other week. I also encouraged her to ingest 1200 milligrams of calcium in divided doses with her meals.
She returned one year later with marked improvement of the nonspecific aches and pains in her bones and muscles. There was no change in her height. However, her bone mineral density study revealed a 5.1% significant increase in her L2-L4 spine and a significant 11.1% increase in her hip bone density. When I first saw her she had 25-hydroxyvitamin D PTH levels of 11 ng/ml (normal range 20-100 ng/ml) and 90 pg/ml (normal range 15-60 pg/ml) respectively. Her 25-hydroxyvitamin D is now 42 ng/ml and her PTH level is 45 pg/ml.
Patients who suffer from vitamin D deficiency and osteomalacia often can have significant improvement in the bone mineral density in their hip and spine by simply correcting their vitamin D deficiency and ensuring that they are also ingesting an adequate amount of calcium. Her bone mineral density is now considered to be normal at both her hip and spine, and, thus, I will maintain her on adequate calcium of 1200 milligrams/d along with 50,000 IU of vitamin D2 once every other week.