18 Jun 2021

3/11/21: Hepatic Amyloidosis

PGY3 Cameron Furey presented a case of a 58 year old M with history of CKD Stage III, L nephrectomy, Type 2 DM and ETOH use presents with 3 days of abdominal distention/pain, bilateral LE edema, subjective fevers, chills, SOB and NBNB emesis.  Also notes non-bloody diarrhea two days prior to admission that was self treated with unknown capsule from the store and a herbal remedy.  Patient was in his usual state of health 4 days prior.  Denies any recent travels.  

SH: Originally from Mexico, immigrate 10 years ago.  Previously worked as a plumber/electrician but now homeless for many years.  Drinks 2-3 beers (3-4x weekly) for many years.  Last drink 8 days ago.  Denies tobacco/illicit drug use.

Vitals: T 37.5, HR 103, RR 20, BP 119/72,O2 sat 96% on RA

Physical Exam significant disheveled male, A&Ox4 but lethargic (needing to be woken up during exam), +systolic ejection murmur, tachypneic, abdomen was diffuse tenderness and distended, no hepatosplenomegaly, 1+ lower extremity edema bilaterally

CBC: WBC 17.3> Hb 4.9/Hct 17.1 <Plt 255 (MCV 80.9, RDW 20.6%)

CMP:

Na 139/K 4.5/Cl 114/HCO3 12/BUN 24/Cr 2.53<Glucose 104 (Cr 8month ago: 2.05)

ALP 226>T.protein 8.3/Albumin 2.6/AST 46/ALT 17/Tbili 0.8/Dbili 0.4

Ca 7.8

Coags: PT 20.3, INR 1.75, PTT 53.7

Blood culture positive for staph hominis x2.  UA with 100 protein, negative leuks/nitrite.  HIV and RPR negative.  Ascitic fluid negative for SBP, SAAG: 1.7, no malignant cells identified.

Ammonia was elevated 97. 

Imaging with abdominal US and CT A/P showed a nodular liver surface with moderate ascites, consistent with cirrhosis.

Hemolysis labs showed elevated LDH 267, normal haptoglobin.  DIC labs showed elevated D-Dimer at 10.16 and low fibrinogen at 154.

SPEP and UPEP showed polyclonal gamma globulin elevation. Both kappa and lambda were elevated but ratio normal.

Transjugular liver biopsy obtained which showed evidence of active alcoholic liver disease and strongly positive amyloid-P component within the globules and some of the vessel walls.

Treatment: Patient was found to have EVs, s/p EVL on EGD.  Given the findings on liver biopsy, liver was consulted and deferred starting steroids due to low Maddrey’s DF score.  Patient was stabilized with transfusions and discharged for further follow up.

Teaching points:

  1. Primary (AL) amyloidosis: due to deposition of protein derived from immunoglobulin light chain fragments.
  2. Secondary (AA) amyloidosis: a potential complication of chronic diseases with ongoing or recurring inflammation
  3. Other amyloidosis: not associated with either recognized underlying diseases or rare pathogenic mutations in the precursor protein.  Ex: leukocyte cell-derived chemotaxin 2 (LECT2)- associated amyloidosis – common in Hispanic population (accounts for 1/4 of the cases) and in CKD patients. It is an incidental finding without need for treatment.

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