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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial mixed cryoglobulinemia


Other Names for this Disease
  • Meltzer syndrome
  • Cryoglobulinemic vasculitis
  • Essential cryoglobulinemia
  • Essential mixed cryoglobulinemia
  • MC
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Overview

Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a "gel-like" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. The associated signs and symptoms vary from person to person depending on which parts of the body or organ systems are affected; however, common features include purpura, joint pain, breathing problems, muscle pain, fatigue, glomerulonephritis, Raynaud's phenomenon, and skin abnormalities.[1][2] The underlying genetic cause of familial mixed cryoglobulinemia is currently unknown. Although there are only a few reported families with this condition, it appears to be inherited in an autosomal dominant manner.[3] Treatment is based on the signs and symptoms present in each person. In severe cases, medications that suppress the immune system may be necessary.[1]
Last updated: 1/19/2016

References

  1. Adam M Tritsch, MD. Cryoglobulinemia. Medscape Reference. March 2015; http://emedicine.medscape.com/article/329255-overview.
  2. Mixed Cryoglobulinemia. NORD. 2013; http://rarediseases.org/rare-diseases/mixed-cryoglobulinemia/.
  3. CRYOGLOBULINEMIA, FAMILIAL MIXED. OMIM. 2004; http://www.omim.org/entry/123550.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial mixed cryoglobulinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Meltzer syndrome
  • Cryoglobulinemic vasculitis
  • Essential cryoglobulinemia
  • Essential mixed cryoglobulinemia
  • MC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.