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Internal Medicine

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A 57-year-old man seeks attention for intermittent fevers that have been present for more than 35 years. The febrile episodes began many years ago when he was a college student, continued to occur every one to two months, and last 4-6 days.

During febrile episodes, he experiences extreme fatigue and “can’t do anything.” Between episodes he feels well and is a productive businessman. His only associated symptom or sign is a rash that typically occurs as a large, red, irregularly defined patch on his right buttock that extends down onto his posterior thigh.

During the early years of his illness, he sought medical attention repeatedly and was hospitalized twice. No specific abnormalities were found and no diagnosis was made. Laboratory studies were always normal except for a persistently elevated sedimentation rate.

After about ten years, he decided he would “just have to live with it” and stopped seeing physicians for febrile episodes.

He is looking for answers again because his only child, a college student, has recently developed a similar illness.

Which one of the following is the most likely diagnosis?

  • 0%Familial Mediterranean Fever

  • 0%Cyclic neutropenia

  • 0%TRAPS (tumor necrosis factor receptor ass. periodic syndrome

  • 0%Hyperimmunoglobulin D syndrome

@Everyone TRAPS is a rare, autosomal dominant disorder in which there is a defect in the gene that encodes the receptor for tumor necrosis factor. Patients may present from infancy to the 50s. Recurrent fevers over many years occurring every 5-8 weeks and lasting several days, in the absence of any evidence of infection are typical.

Other features that may be present include myalgias, conjunctivitis, periorbital edema, abdominal pain and monoarticular arthritis. Rash is common, usually manifesting as one or several erythematous patches that may spread distally down an extremity. A minority of patients will develop amyloidosis.

Familial Mediterranean Fever (FMF), an autosomal recessive disorder, may also present in adult life and is characterized by episodic attacks of fever accompanied by polyserositis with abdominal pain, pleurisy, and sometimes arthritis. Rash is very rare in FMF.

In cyclic neutropenia monthly episodes of profound neutropenia occur lasting about a week. Diagnosis typically is made in childhood. The condition appears to be more common among African American children.

Hyperimmunoglobulin D, an autosomal recessive periodic fever syndrome, is characterized by attacks of fever accompanied by chills, enlarged cervical nodes and sore throat, aphthous ulcers, and a pleomorphic rash; IgD levels are elevated.

Chronic granulomatous disease is a disorder of neutrophils in which intracellular killing of certain organisms is impaired leading to recurrent infections, not unexplained fever.

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