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Burning sensation in hands and feet !

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#1 ·
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
 
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#5 ·
1) The correct answer is B. Fabry disease.
2) The correct answer is A. Angiokeratoma.

This patient most likely has Fabry disease. Fabry disease is an X-linked, lysosomal storage disease that is characterized by alpha-galactosidase A enzyme deficiency. This deficiency results in the accumulation of glycosphingolipids, such as globotriaosylceramide, in various tissues including the endothelial cells of blood vessels. Common symptoms include acroparesthesias (burning in hands and feet), lens opacities, anhidrosis, and angiokeratomas. The presence of these characteristics in this patient, along with the elevated globotriaosylceramide levels, help dif erentiate Fabry disease from the other answer choices provided in Question 1. Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas, pheochromocytomas, and renal cell carcinomas. Corneal opacities are not characteristically seen in Hunter syndrome. HSV infection is not typically associated with anhidrosis. Hurler syndrome is associated with glycosaminoglycan accumulation, resulting in developmental delay during infancy. Hurler syndrome is also associated with coarse facial features, which are absent in this patient. Renal failure, cardiac involvement, and stroke are some of the more common complications that are seen in Fabry disease. Once renal failure occurs in these patients, renal transplant is the therapeutic modality of choice. With regards to Question 2, seborrheic keratosis is the most common benign skin lesion seen in older persons. Actinic keratosis is a dysplastic premalignant, epidermal lesion. Arthritis is a nonspecific disease process, and cerebral ringenhancing cerebral lesions on CT are associated with primary tumor, toxoplasmosis, and metastasis. None of these entities are particularly associated with Fabry disease. Detection of elevated globotriaosylceramide levels and enzyme assay of leukocytes to assess for galactosidase A enzyme deficiency are useful diagnostic tools. Microscopic examination reveals lipid laden cells in various tissues such as muscle, skin, and blood vessels. Historically, treatment of Fabry disease has been largely symptomatic in nature, though enzyme replacement therapy is now available, and gene therapy development is underway. Notwithstanding these advances, no definitive cure for Fabry disease is available at present.
 
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