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Diagnosing Gaucher Disease In Adults

61-year-old white male with skin rash and thrombocytopenia
  • Rash present for approximately 3 to 4 weeks, erythematous and mostly macular but nonpruritic
  • Patient was told many years ago that his spleen was palpable
  • Approximately 10 years ago, patient was told his platelets were low
Medical Examination
  • Vitals: 98.5ºF, 73, 18, 114/71, 99%
  • HEENT: NCAT, no adenopathy
  • CV: RR, S1 S2
  • Lung: CTA bilaterally
  • Abdomen: spleen tip palpable on inspiration, liver not palpable
  • Skin: fading, mostly macular rash on trunk and extremities
  • HgB, WBC, differential: within normal limits
  • Platelets: 64 x 109/L
  • Cryoglobulin screen: positive
  • Serum protein electrophoresis: IgG kappa
  • Paraprotein: 17 g/L or 1700 mg/dL
  • Ferritin: 608 μg/L
  • ACE: 138 U/L
  • 24-hour urine protein: 0.25 g/dL
    • κ-chains: 0.07 g/d
Abdominal ultrasound
  • Splenomegaly 18 cm (normal range: <13 cm) with multiple echogenic foci up to 3.5 cm
  • Hepatomegaly 18.1 cm (normal range: 13.5-16.5 cm) with fatty infiltration
  • Multiple small calculi in gall bladder

Peer Perspectives

Zachary Spigelman, MD:  61-year-Old White Male with Skin Rash and Thrombocytopenia
It’s important to broaden your differential when you’re presented with patients with splenomegaly.
Zachary Spigelman, MD:  Diagnosing Gaucher Disease
You may be able to find out there are several patients within your population that have it.
Zachary Spigelman, MD:  Adult vs Pediatric Gaucher Disease
The presentation, when it’s diagnosed in a child, seems to be much more acute, much more severe.
Zachary Spigelman, MD:  Delayed Diagnosis Common in Gaucher Disease
The diagnosis is usually delayed months to years in Gaucher disease
Zachary Spigelman, MD:  Ashkenazi vs Non-Ashkenazi Populations
There’s a great deal of Ashkenazic/non-Ashkenazic mixture now that is missed. It’s important to go back three generations in the family history.
Zachary Spigelman, MD: Genetic Tests vs Enzymatic Tests for Gaucher Disease
Will the genetics supersede the enzymatic which will supersede the phenotypic test?
Zachary Spigelman, MD: Cryoglobuminemia and Bone Pain
Cryoglobulinemia is classically, in most American settings, either a side effect of hepatitis C, monoclonal gammopathy, or autoimmune disease.
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