A Case of Waterhousefriderichsen Syndrome That Led to the Diagnosis of Terminal Complement Deficiency

Meeting: Hospital Medicine 2012, April 1-4, San Diego, Calif.

Abstract number: 97864

Case Presentation:

A previously healthy 19–year–old female, presented with 1 day of fever, severe occipital headaches, nausea, vomiting, diarrhea, severe myalgias and polyarthralgias. She is attending her spring semester in college while living in a dormitory. Initially, patient was tachycardic, afebrile and normotensive, but in a matter of hours she became hemodynamically unstable with profound hypotension, hypoxia, hypothermia and obtundation. Skin had a macular and petechial rash. Patient had leukocytosis of 25.8K cells/mL and a severe lactic acidosis. She was aggressively resuscitated. Pressor support and broad spectrum antibiotics were started due to refractory hypotension. Patient was intubated and admitted to the ICU. The next CBC showed 36.5K cells/mL leukocytes with 32% bandemia and thrombocytopenia of 73K cells/mL. CSF analysis showed pleocytosis of 661 leukocytes with 65% neutrophilic predominance. An abdominal CT showed enlarged adrenal glands with hyperintense areas (likely hemorrhagic). The petechial rash evolved into a purpuric rash. She developed multiorgan dysfunction but was successfully treated with fluids, vasopressors, antibiotics and stress dose steroids. On the fourth day there was a significant clinical improvement and the pressor support was weaned off. The CSF cultures and blood cultures came back negative. In the medical general floor, further questioning revealed that 4 years previously she had another episode of septic shock with disseminated gonococcal infection. Immunology was consulted due to a suspected complement deficiency. The work up revealed that she had terminal complement deficiency, specifically C6 deficiency. She received vaccinations and was taught about how to prevent and recognize future events.

Discussion:

The typical features of the Waterhouse–Friderichsen Syndrome include a prodromal phase, petechial rash that becomes purpuric, adrenal glands involvement with profound hypotension and multiorgan failure. The relatively rapid recovery and history of recurrent Neisserial infections made the hospitalist suspect complement deficiency. In the US, C5, C6, and C8 deficiencies are the most common. C6 deficiency is usually reported in African Americans. In these patients, Meningococcal disease tends to present later in life (late teens), has a milder course and its mortality rate is lower (3–4%) compared with normal populations in the US (6–12%). Patients are otherwise healthy in most cases. The CH50 should be the initial screening test. If the CH50 is very low, as in this patient, the specific deficiency is diagnosed by measuring specific component levels. C6 should be measured first in African Americans and that was the case of this patient.

Conclusions:

The rapid recognition of the symptoms of the Waterhouse–Friderichsen Syndrome was a key element to administer the proper treatment in this life threatening condition. Recurrent Neisserial infections demand further work up for immunodeficiencies, especially complement disorders.

To cite this abstract:

Aguilar–Aragon J. A Case of Waterhousefriderichsen Syndrome That Led to the Diagnosis of Terminal Complement Deficiency. Abstract published at Hospital Medicine 2012, April 1-4, San Diego, Calif. Abstract 97864. Journal of Hospital Medicine. 2012; 7 (suppl 2). https://www.shmabstracts.com/abstract/a-case-of-waterhousefriderichsen-syndrome-that-led-to-the-diagnosis-of-terminal-complement-deficiency/. Accessed November 22, 2019.

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