National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pseudopseudohypoparathyroidism

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I was diagnosed in my teens with pseudopseudohypoparathyroidism. I am now an adult. My question is: Is abnormal pain a symptom of this condition? I have had pain all through my body for as long I can remember, but it has gotten much worse over the past few years. I receive physical therapy and medication, but the pain is still there. The pain is along my spine and shoulders and arms and legs and head. The pain gets so bad that I get stabbing headaches and feel faint.
Yes. Pseudopseudohypoparathyroidism (PPHP) can cause joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[1]  

Examples of painful bone, joint, and nerve injuries that have been described in individual patients with PPHP include: 

  • Synovial osteochondromatosis[2] - A joint disorder where cartilage forms in the lining of the joint (synovium).  Pieces of cartilage may enlarge, break off into the joint space, and harden, forming loose bodies.[3][4] People with this disorder often report having experienced several years of joint pain, swelling and stiffness. If allowed to continue, the condition can limit range of motion in the affected joint.[3][4] Treatment may involve surgery.[5]

  • Ossification of the posterior longitudinal ligament (OPLL)[1]  – A hardening of the band of tissue that runs up and down behind the spine and inside the spinal canal.[6] This can cause narrowing of the spinal canal and increased pressure on the spinal nerves.[6]  Signs and symptoms may include numbness, weakness, cramping, general pain in the arm(s), or general or shooting pain in the leg(s).[6] Symptoms slowly worsen over time.[6]

  • Cervical myelopathy[1] – A narrowing of the spinal column. This can cause many different symptoms, including pain, numbness, and weakness.[7]  OPLL can cause cervical myelopathy.

  • Avascular necrosis[8] - The death of bone tissue due to a lack of blood supply. This condition can cause mild to severe pain.[9]

  • Intracranial calcification[1] - Calcium deposits in the brain, most often in the basal ganglia. The basal ganglia are structures deep within the brain that help start and control movement. These calcifications may cause involuntary movements (extrapyramidal symptoms).[1]

Why complications like these sometimes happen to people with PPHP is not clear. Mutations in the gene GNAS cause PPHP. GNAS is being studied for its role in causing abnormal bone growth in soft tissues (i.e., progressive osseous heteroplasia).[1] These GNAS effects may explain why painful tissue, joint, and nerve damage occurs in people with PPHP.

We strongly recommend that you speak with your healthcare provider regarding the symptoms you have been experiencing, and to discuss your testing and treatment options.

In addition, the following organizations provide information and support to people who live with chronic pain and may be a helpful resource.

American Chronic Pain Association (ACPA)
P.O. Box 850
Rocklin, CA 95677
Toll-free: 800-533-3231
Fax: 916-632-3208
Email: ACPA@pacbell.net
Web site: http://www.theacpa.org

American Pain Foundation
201 North Charles Street
Suite 710
Baltimore, MD 21201
Toll-free: 888-615-7246
Email: info@painfoundation.org
Web site: http://www.painfoundation.org

Last updated: 3/18/2013

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Iwase T, Nokura K, Mizuno T, Inagaki T. Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. J Neurol. 2002 Oct;249(10):1457-8; http://www.ncbi.nlm.nih.gov/pubmed/12532935. Accessed 3/18/2013.
  2. Fraser MR Jr, Sechriest VF 2nd. Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism. Orthopedics. 2011 Aug 8;34(8):e413-7; http://www.ncbi.nlm.nih.gov/pubmed/21815586. Accessed 3/18/2013.
  3. Synovial Osteochondromatosis: What causes it?. MayoClinic.com. 2006; http://www.riversideonline.com/health_reference/Questions-Answers/AN01337.cfm. Accessed 4/20/2009.
  4. Monu JUV, Oka M. Synovial Osteochondromatosis. eMedicine. 2007; http://emedicine.medscape.com/article/396297-overview. Accessed 4/20/2009.
  5. Monu JUV, Oka M. Synovial Osteochondromatosis: Follow-up. eMedicine. 2007; http://emedicine.medscape.com/article/396297-followup. Accessed 4/20/2009.
  6. Questions and Answers About Spinal Stenosis. National Institute of Arthritis Musculoskeletal and Skin Diseases. 2002; http://www.niams.nih.gov/Health_Info/Spinal_Stenosis/default.asp#spine_e. Accessed 3/18/2013.
  7. Cervical Spondylotic Myelopathy (Spinal Cord Compression) . . American Academy of Orthopaedic Surgeons. http://orthoinfo.aaos.org/topic.cfm?topic=A00541. Accessed 3/18/2013.
  8. De Smet L. Lunatomalacia in pseudopseudohypoparathyroidism: a case report. Genet Couns. 2000;11(4):379-81; http://www.ncbi.nlm.nih.gov/pubmed/11140416. Accessed 3/18/2013.
  9. Avascular necrosis. MayoClinic. May 2012; http://www.mayoclinic.com/health/avascular-necrosis/DS00650. Accessed 3/18/2013.
  10. Pseudopseudohypoparathyroidism; PPHP. Online Mendelian Inheritance in Man. December 2008; http://omim.org/entry/612463. Accessed 3/18/2013.