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Genetics  (Expert Forum)
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PVNS related to possible genetic disorder?
Answered by
AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

PVNS related to possible genetic disorder?

by jpringle, Jun 27, 2009 02:56PM
I am a 30 yr old female who has a multitude of orthopedic issues. These include...
Osteoporosis- numerous fractures with little to no trauma
Osteoarthritis of most joints
Hearing loss- sensorineural and conduction
Loose joints
PCOS- Polycystic Ovarian Syndrome (absent period)
Vitamin D Deficiency
Cold Intollerance (Raynauds in hands/feet)
Chronic Headaches
High Blood Pressure
Pigmented Villonodular Synovitis Left Knee - PVNS (2001) major surgery & then radiation

My most recent problem is that an MRI of my left wrist shows the potential for PVNS there now also. I have been told that PVNS does not occur in more than one joint except on EXTREMELY RARE CIRCUMSTANCES.

Could I have a genetic disorder?
Are there any genetic disorders that make someone prone to PVNS?

Your help in this puzzle is greatly appreciated!

Jen

by Jordanna Joaquina, MS, CGC, Jun 29, 2009 01:16PM
To: jpringle
We recommend that you meet with a medical geneticist who will perform a physical exam, review your medical history and family history. A medical geneticist can be found at the American College of Medical Genetics website. We wish you the best.
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