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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial mixed cryoglobulinemia


Other Names for this Disease
  • Meltzer syndrome
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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.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.