A 19-year-old man comes to see his primary care physician with complaints of an intermittent burning pain in his hands that has signifcantly worsened over the past year. He describes the pain as 7/10 without radiation. Occasionally, his feet and legs are involved as well. During an attack the previous week, the pain lasted the entire day. The patient is not currently on any medications and denies the use of illicit drugs or alcohol. However, he does admit to smoking one pack of cigarettes daily. The patient admits to having unprotected sex with multiple partners over the past 2 years. The patient cannot recall any major events that correlate with the onset of symptoms except that he started working for a shipping company 1½ years ago to help pay for college expenses. His work requires heavy lifting and storing boxes in the warehouse. Though strenuous ef ort is involved, the patient has noticed that he hardly perspires at all. In the office, the patient is afebrile. His respiratory and pulse rates are within normal limits. On exam, the patient is anicteric, and no conjunctival pallor is present. However, lens and corneal opacities are appreciated. Cardiac and respiratory exams are noncontributory. Skin examination shows multiple purple to dark-blue papules present below the patient’s umbilicus and on his thighs. No penile ulcerations are present, and no urethral discharge is identified. However, urinalysis reveals microscopic hematuria. Mild pain is elicited upon palpation of the right lower quadrant. When asked about the duration of the abdominal pain, the patient states that he has notice intermittent, ill-defined abdominal pain for the past 13 months. Special studies are obtained which show elevated globotriaosylceramide levels.
1. Which of the following represents the most likely diagnosis?
A. Hurler syndrome
B. Fabry disease
C. Hunter syndrome
D. Herpes simplex virus, type 2 (HSV-2)
E. von Hippel-Lindau disease
2. Which of the following additional symptoms is most likely to be present in this patient?
A. Angiokeratoma
B. Seborrheic keratosis
C. Actinic keratosis
D. Arthritis
E. Ring-enhancing cerebral lesions
1. Which of the following represents the most likely diagnosis?
A. Hurler syndrome
B. Fabry disease
C. Hunter syndrome
D. Herpes simplex virus, type 2 (HSV-2)
E. von Hippel-Lindau disease
2. Which of the following additional symptoms is most likely to be present in this patient?
A. Angiokeratoma
B. Seborrheic keratosis
C. Actinic keratosis
D. Arthritis
E. Ring-enhancing cerebral lesions