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Genetic and Rare Diseases Information Center (GARD)

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Protein S deficiency

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Your Question

Has any correlation been found between cryoglobulinemia and protein S deficiency?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Has any correlation been found between cryoglobulinemia and protein S deficiency?

We identified one study that investigated the contribution of blood clotting disorders (including protein S deficiency) to the symptoms of mixed cryoglobulinemia.[1] In this study, researchers found that having high levels of homocysteine in the blood (hyperhomocysteinemia) was a risk factor for severe purpura and for the presence of skin ulcers. None of the other causes of blood clotting (thrombophilia) that were studied influenced the clinical presentation of mixed cryoglobulinemia.
Last updated: 12/7/2009

Are there any reports of individuals diagnosed with cryoglobulinemia and protein S deficiency?

We identified two cases reported in the medical literature that you might find helpful. Case reports document clinical findings associated with individual cases.  It is important to keep in mind that although there are often symptoms or clinical findings that are documented in these case reports, they are based on the specific individuals that are studied and may differ from one affected person to another. Click on each link to read a summary of the article.

1: Hernández JL, Zarrabeitia R, Fernández-Llaca H, Hortal L, González-Macías J. Multifactorial thrombotic-type microangiopathy with skin ulcers and hepatitis C infection. Eur J Intern Med. 2000 Jun;11(3):165-167.

2: Ho BL, Huang P, Khor GT, Lin RT. Simultaneous thrombosis of cerebral artery and venous sinus. Acta Neurol Taiwan. 2008 Jun;17(2):112-6.

Last updated: 12/7/2009

  • Casato M, Carlesimo M, Francia A, Timarco C, Antenucci A, Bove M, Martini H, Visentini M, Fiorilli M, Conti L. Influence of inherited and acquired thrombophilic defects on the  clinical manifestations of mixed cryoglobulinaemia. Rheumatology (Oxford). 2008 Nov;47(11):1659-63.