30 Jun 2022

9/14/20: Erdheim Chester Disease

PGY3 Alexandra Wong presented a case of a 36 y/o F with history of von Willebrand disease and abnormal uterine bleeding presents with worsening SOB x4 days.  She reports that she has developed orthopnea at night and has noticed increased in abdominal girth and worsening lower abdominal pain.  She says her breathing is better when she lays on her side.  Does not think her dyspnea is worse with ambulation.  Has not been eating for past four days because she feels like it has been worsening her abdominal distention.  Reports bilateral LE edema, L>R.  Has been taking Amicar PRN and states vaginal bleeding has been under control.  Home medications include naptroxen PRN, DDAVP PRN and amicar PRN.  No significant family history and denies any tobacco/ethanol/drug use.

Vitals: T 36.9, HR 110, RR 22, BP 118/65, O2 sat 97% RA

Physical Exam significant for low set ears, protruding eyes, webbed neck, II/VI systolic ejection murmur best heard at LUSB, pectus excavatum, mild crackles and decreased breath sounds in bibasilar fields, markedly distended and tense abdomen with positive fluid wave, tender to palpation in lower quadrants, serpiginous rash on abdomen and 1+ pitting edema in b/l LE.

CBC: WBC 24.5> Hb 9.8/Hct 29.6 <Plt 524 (MCV 79.0, RDW 18.5%)

Diff: 84.4% PMN, 7.4% lymph, 7.6% monocytes, 0.1% eosinophils, and 0.5% basophils


Na 134/K 4.2/Cl 92/HCO3 22/BUN 6/Cr 0.54 <Glucose 90

ALP 228>T.protein 6.1/Albumin 3.1/AST 15/ALT 9/Tbili 2.3/Dbili 1.7

Coags:PT 15.4, INR 1.24, PTT 30.9

Infectious workup:

  • BCx negative x2
  • UA negative
  • UCx negative
  • Lactate 0.9
  • HIV non-reactive
  • RPR non-reactive
  • Quant gold indeterminant
  • Wound culture from Pelvic Mass: 1+ e. coli, negative for AFB

Hematology workup:

  • Iron panel
    • Iron 25 mcg/dL (normal 37-145)
    • TIBC 346 mcg/dL (normal 250-430)
    • Iron sat 7% (normal 15-50)
    • Ferritin 13 ng/mL
  • Retic 4.13%
  • Abs Retic 131.33 x10^9
  • Haptoglobin 243 (normal 30-200)
  • LDH 138 (normal 135-225)

Onc workup:

  • AFP 5.3 ng/mL (normal <8.3)
  • CEA 0.5 ng/mL (normal <3.8)
  • CA 19-9 1 U/mL (normal <35)
  • CA 125 92 U/mL (normal < 38)
  • HE4 58 pmol/L (normal <140)

CT A/P with contrast showed L pelvic thick walled, tubular cystic mass with invasion of the L psoas/iliacus/iliopsoas and extension into the L lower extraperitoneal compartment.  Large volume simple abdominopelvic ascites with diffuse peritoneal enhancement.

Surgical pathology done with H&E showing bland histiocytes with foamy cytoplasm.  Strongly positive for CD68 and CD163.

Treatment: Patient was started on CTX/Flagyl on admission.  Imaging was suggestive of TOA vs malignancy.  Biopsy was done and patient discharged with plan for surgery.  However, pathology came back prior to the surgery, diagnosing the patient with Erdheim Chester Disease.  She was treated with pegylated interferon-alpha and discontinued to due side effects.  She then received Cladribine x7 cycles and subsequently underwent resection of the L pelvic mass.  Patient also went for genetic testing, positive for SOS1 mutation, indicative for Noonan Syndrome.

Take home points:

  1. Erdheim Chester disease is a non-Langerhans histiocytic disorder characterized as an inflammatory myeloid neoplasm.  It has a slight male predominance, presents in middle aged adults (mean 55 years).
  2. Pathogenesis: mutations in MAPK pathway and BFRAF has been found.
  3. Clinical Symptoms: long bone with osteosclerosis manifestation (PET CT shows increased metabolic activity, most common manifestation), cardiac involvement (pseudotumors, periaortic infiltration also known as “coated aorta”), endocrine (develop DI), retroperitoneal development, and hairy kidney (bilateral renal soft tissue infiltration, pathognomonic).

Review Article:

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