Section: USMLE

32) A 25-year-old woman presents with pain and tenosynovitis of the wrists and ankles, and arthralgias of other joints. She notes two prior episodes similar to the present one. She just had her menstrual period during the previous week. Physical examination reveals ulcerated lesions overlying the wrists and ankles. These symptoms are likely due to deficiency of which of the following?

1. C1 esterase inhibitor
2. Ciliary function
3. Complement (C6-C8) components
4. Endothelial adhesion molecules
5. Eosinophils

This patient has disseminated gonococcemia. Gonococcal arthritis and tenosynovitis typically involve both the upper and lower extremities equally. Vesicular skin lesions are characteristic of disseminated gonococcal disease. Females are at particular risk of gonococcemia during menstruation, since sloughing of the endometrium allows access to the blood supply, necrotic tissue enhances the growth of Neisseria gonorrhoeae, and there is an alteration of the pH. Patients who have a C6-8 deficiency have an increased risk of disseminated gonococcemia and tend to have multiple episodes. These patients are also at risk for bacteremia from Neisseria meningitidis.

C1 esterase inhibitor deficiency can occur as an autosomal dominant disorder or is acquired. Patients have angioedema without urticaria. The syndrome is also associated with recurrent attacks of colic and episodes of laryngeal edema.

Ciliary dysfunction is a marker of Kartagener syndrome (immotile cilia syndrome). The syndrome includes infertility, bronchiectasis, sinusitis, and situs inversus. It is an autosomal recessive disorder caused by abnormalities in the dynein arm of the cilia.

Endothelial adhesion molecule deficiency, or beta 2 integrin deficiency, is characterized by failure of neutrophils to express CD18 integrins on their surface. Patients have impaired phagocyte adherence, aggregation, chemotaxis, and phagocytosis of C3b-coated particles. Clinically, there is delayed separation of the umbilical cord, sustained agranulocytosis, recurrent infections of skin and mucosa, gingivitis, and periodontal disease.

Eosinophil deficiency, or eosinopenia, occurs with stressors such as acute bacterial infection and following administration of glucocorticoids. There is no known adverse effect of eosinopenia.