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Disease Profile

Waterhouse–Friderichsen syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

A39.1+ E35.1*

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Fatal pneumococcal Waterhouse-Friderichsen syndrome; Waterhouse-Friderichsen syndrome

Categories

Bacterial infections; Endocrine Diseases

Summary

Waterhouse–Friderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock.[1] Most patients with this condition are children, although adults may rarely be affected.[2] It is deadly if not treated immediately.[1][2]

Symptoms

Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiaeseptic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction.[3][4] Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain).[2][3] 

A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome.[2]

  • In its early stages, the rash consists of small, pink macules or papules.
  • These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.

Cause

Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides.[2][3] It may also be associated with a history of splenectomy.[3] In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use.[1] While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.[2]

 

Treatment

Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive.[2]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • 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.
  • 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 Waterhouse–Friderichsen syndrome. Click on the link to view a sample search on this topic.

References

  1. Vyas JM, Zieve D, Black B. Waterhouse-Friderichsen syndrome. MedlinePlus. September 1, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000609.htm.
  2. Tritos NA. Adrenal Hemorrhage. Medscape Reference. August 27, 2014; https://emedicine.medscape.com/article/126806-overview.
  3. Muhammad AM. Nonplatelet Hemostatic Disorders. Medscape Reference. December 30, 2015; https://emedicine.medscape.com/article/210467-overview.
  4. de Assis Aquino Gondim F. Meningococcal Meningitis. Medscape Reference. September 4, 2015; https://emedicine.medscape.com/article/1165557-overview.

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