Moffitt AM report PEARLS 12/4: Isolated elevated alk phos, IgG4, and other rare diseases

elf.pngIsolated elevated alk phos – think infiltrative liver disease!!

  • Sarcoid
  • Amyloidosis
  • TB
  • Histoplasmosis
  • Malignancy (HCC, mets, lymphoma)
  • Abscesses
  • *For workup, if bile duct is dilated or alk phos is elevated >50% (as in this case!) – consider ERCP, liver biopsy, or MRCP


IgG4 disease

  • A systemic fibroinflammatory infiltrative disease of lymphoplasmacytic infiltrates that are IgG4+ – which can be seen in every organ system
  • Constitutional symptoms of fever, weight loss, and fatigue are uncommon but reported!
  • Retroperitoneal involvement of IgG4 related disease occurs in 20% of patients and usually manifested by back and flank pain, leg swelling, or obstructive uropathy
  • Great NEJM review and a very recent (10/2015) case that Anna mentioned – thanks Anna!


Other rare diseases that came up in discussion today…a quick refresher of each here!

  • Castleman disease: angiofollicular lymph node hyperplasia (benign) – often in chest, abd, and/or neck.
  • Erdheim-Chester: non-Langerhans’ cell histiocytosis characterized by multifocal osteosclerotic lesions of long bones, manifested by bone pain in 96% of patients! Also often see significant retroperitoneal LAD.
  • Acute intermittent porphyria: autosomal dominant defect in an enzyme for heme synthesis (but has low penetrance), leading to severe and poorly localized abdominal pain that is neuropathic in nature. So, fever and lekocytosis are usually minimal or absent.
  • Familial Mediterranean fever: hereditary autoinflammatory disorder characterized by recurrent bouts of fever and serosal inflammation.
    • Sporadic and unpredictable attacks of abrupt onset. Variable frequency and no clear trigger!
    • often start at a young age (<20yo) but in rare cases the initial attack can occur at >50yo!!
    • 95% have episodic abdominal pain
    • More common in North African Jews, Armenians, Turks, North Africans, Arabs, Greeks, Italians
    • Dx: genetic testing for MEFV mutation – but sometimes this is negative.
      • Dx is also supported by 6 month trial of colchicine which results in a relief of attacks and recurrence after cessation of treatment
    • More on major/minor criteria can be found on uptodate!


Quick bonus herpes zoster ophthalmicus

  • Can lead to vision loss!
  • Initiate antiviral therapy (acyclovir, valacyclovir, or famciclovir) to limit VZV replication
  • Adjunctive topical steroid drops to reduce the inflammatory response and control immune keratitis and iritis


Evernote: case 10.2015IgG4 disease


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