Possible Vitamin D/ Parathyroid Hormone Abnormality_1
Short Summary

51-year-old female with vitamin D deficiency and incompatibility between the PTH and vitamin D levels. She reports that as a child she had numerous cavities in her jaw, and her daughter also had multiple tooth fillings. She wonders whether the reason could be genetic abnormality.

 

Patient's Questions
Questions about possible Vitamin D/ Parathyroid Hormone abnormality.

1.)
The patient's 25 year old daughter’s PTH and Vit. D, 25 levels have been tested and her PTH is also too high (91) when her Vit. D, 25 is normal (33).  Since her daughter is also affected, she is wondering if we could have a genetic abnormality that affects the vitamin D feedback mechanism in their kidneys or elsewhere. 
2.)
What else might be causing these abnormalities?
3.)
If it is safe to continue vitamin D supplementation as prescribed?

Medical Background

Female, Age 51
Background:

1.)
When vitamin D, 25 is too low (16.5 ng/ml),  (PTH) is in the normal range (45 pg/ml)
2.)
When vitamin D, 25 is close to normal (30 ng/ml), PTH is too high (92 pg/ml)
3.)
D,1,25 seems to be indirectly proportional to D,25
4.)
24 hour urinary Ca and phosphate elevated at times; Serum Ca and P have been normal
5.)
The patient's doctors feel that this response is abnormal, so portions of the testing have been repeated.


Results:

 
2/06/08
7/29/08
9/18/08
9/29/08
10/01/08
10/23/08
D, 25
12.5 L
30 L
-
16.5 L
19.6 L
42
PTH 
-
92 H
44
45
44
68 H
D, 1,25
38.4
-
-
-
-
18.8
Ca - Serum
9.4
9.8
-
9.4
9.8
9.7
P - Serum
-
-
-
2.5
-
-
Ca mg/24hr
-
-
455 H
206
-
364 H
Phosphate mg/24
-
-
1022
-
-
1378 H

 
Additional Information:

1.)
The patient's was the only child (out of 4) in her family who had numerous cavities as a child. Different areas of her jaw have been operated on to remove dead or infected bone. Surgeon wondered she had osteoporosis. She had never taken fosamax.
2.)
Her daughter had 12 fillings in her baby teeth. She recently found out that she has needs 12 fillings in her permanent teeth, even thought she was just at the dentist 6 months ago. She is 25.
3.)
Paternal side - aunts and grandmother had significant ‘hump - like’ formation on upper back that prevented them from being able to stand with erect posture.
4.)
Maternal side - 3 generations of women and men have had to have hip and/or knee replacements as early as age 43.
5.)
TSH has been low normal (1.8 - 2.1).Thyroid has multiple nodules. She had not had a biopsy.
6.)
DPD/Crt Ratio slightly elevated (8.2) October, 2007 -   N-telo/Crt normal (50) October, 2008.
7.)   
Rx - Clonidine prn for NE clearance problem. Benadryl and epinephrine prn for anaphylactic and anaphylactoid reactions.

Expert's Opinion

The patient had vitamin D deficiency as most of the urban population. This deficiency is probably corrected at present, if the same laboratory units were used in all measurement of 25(OH)D, was it ng/ml on all occasions? Normally there is a partial correlation between 25(OH)D serum level and PTH, usually plasma PTH concentration is higher in vitamin D deficient patients, but not necessarily above the upper laboratory limit. On the other hand, there are numerous technical problems with PTH measurements that may lead to fluctuating results. Was the same assay and the same lab used on all occasions? What assay was performed? Were the blood collection, transportation and storage rules strictly obeyed? The combination of elevated PTH and low normal 1,25(OH)D is hard to explain on the basis of human physiology, it might be due to some technical laboratory issues, anyway it is not necessary for fracture risk assessment in the patient's case. The 1,25(OH)D assay is even more problematic than PTH and requires meticulous laboratory work of an experienced technician. It is practically never necessary in the assessment of vitamin D deficiency states. How was the urine collection performed?  From what time till what time during the day? Was the first void of the first day of urine collection discarded?
If I understand correctly the patient is interested in osteoporosis prevention and fracture risk assessment in order to undertake some preventive measures. The information that was provided by her does not allow for a proper assessment of this problem. The following will be most helpful:
Height (cm), weight(kg), menstrual status, if postmenopausal – age at menopause. Have any of her parents had a hip fracture, or the cause of hip replacement was osteoarthritis?  Medical history : heart, lung, abdominal, gynecological problems.   Fractures in the past?   Smoking or alcohol drinking?  Bone density results, if the patient is postmenopausal. The original prints of laboratory results may be helpful.
Point by point reply:
Additional Information:

1.)
I was the only child (out of 4) in my family who had numerous cavities as a child. Different areas of my jaw have been operated on to remove dead or infected bone. Surgeon wondered if I had osteoporosis. I have never taken fosamax.Do you have a detailed report including histopathology of the resected bone of these events? Probably not related to osteoporosis.
2.)
My daughter had 12 fillings in her baby teeth. She recently found out that she has needs 12 fillings in her permanent teeth, even thought she was just at the dentist 6 months ago. She is 25.Is she a smoker? What are her nutritional habits?
3.)
Paternal side - aunts and grandmother had significant ‘hump - like’ formation on upper back that prevented them from being able to stand with erect posture. Have they ever sustained a fracture, especially a hip fracture?
4.)
Maternal side - 3 generations of women and men have had to have hip and/or knee replacements as early as age 43.It is probably due to osteoarthritis ( an articular cartilage problem) and is not related to osteoporosis.
5.)
TSH has been low normal (1.8 - 2.1).Thyroid has multiple nodules. I have not had a biopsy If the nodules are below 1 cm in diameter and without suspicious features on ultrasonogrphic exam, no further assessment is necessary. The low normal TSH is not clinically significant.
6.)
DPD/Crt Ratio slightly elevated (8.2) October, 2007 -   N-telo/Crt normal (50) October, 2008. What was the reason to perform these tests?
7.)   
Rx - Clonidine prn for NE clearance problem. Please clarify? It is not an acceptable diagnosis. Benadryl and epinephrine prn for anaphylactic and anaphylactoid reactions.

Questions:

1.)
My 25 year old daughter’s PTH and Vit. D, 25 levels have been tested and her PTH is also too high (91) when her Vit. D, 25 is normal (33).  Since my daughter is also affected, I am wondering if we could have a genetic abnormality that affects the vitamin D feedback mechanism in our kidneys or elsewhere. What is your daughter's serum calcium, phosphate, albumin and urinary calcium. phosphate and creatinine? 
2.)
What else might be causing these abnormalities?First of all we have to clarify if there is an abnormality and not a technical laboratory problem

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