Morning Report 9/5/18

ADAM CARDULLO, MD PGY -2

CC: 16yo male with abdominal pain, emesis,
exhaustion for 1 week in the setting of weight
loss for the past 2 months brought in to the ED
by his mother due to new symptom of yellow
eyes and skin.
Vomiting Complaint:
-- Onset of symptoms: 1.5 month prior to admit
-- Worsening over: past few days
-- Ever bilious: bright green-yellow looks like acid
-- Ever bloody: No bright red blood, however today he does
admit getting out of a pool and throwing up into a bag, he saw
dark brown spots.
-- Characterization of contents: mainly liquid and acid like, does
not contain food
-- Average episodes per day/week: 2-3
-- Waking from sleep to vomit: No
-- Limitation of activities due to emesis: No
-- Context/timing (time of day/meals, activity, diet, stress):
Mostly in mornings, coincides with stress of getting ready for
work. Also occurs at night.
-- Aggravating factors: Nothing he has noticed
-- Relieving factors: Usually if he is in a relaxed state, he will not
vomit
-- Factors no influence: Has steered clear of fatty foods.
-- Medications/therapies (failed): TUMS_, Pepcid AC
-- Medications/therapies (successful): _None
-- Associated signs/symptoms: Sweating
Pain Complaint:
-- Duration: 30-40 minutes
-- Location: Epigastrum, RUQ, does not radiate
-- Quality: cramping
-- Frequency: 2-3 x per week
-- Severity: variable
-- Context/timing: stress
-- Aggravating factors: none
-- Relieving factors: vomiting
-- Medications/therapies (failed): none
-- Medications/therapies (successful): none
At OSH, labs significant for Tbili 19.5 (direct 10.26), AST 114, ALT 33, alk phos
181. WBC 4.7, not anemic, plt 144, mono spot negative, Tylenol level 0. INR 1.7,
PT 18.7. Alb 2.6. Hep panel and haptoglobin pending
Gall bladder ultrasound revealed sludge. No stones, no tenderness.
Physical Exam
T: 37.0 °C (Axillary) HR: 90(Apical) RR: 18 BP: 136/85 SpO2: 98% WT: 114.100 kg

General: Alert, Active, No Apparent Distress, Interactive but fatigued.

Eyes: Sclera with minimal icterus
Ears: Normal External Inspection/Hearing
Nose/Mouth: Normal Dentition/Gums/Oral Mucosa/Tongue/Tonsils/Posterior Pharynx
Lungs: Clear to Auscultation, No Wheezes/Ronchi/Rales/Egophony
Cardiovascular: Regular Rate Rhythm, No gallops/rubs. I/VI low frequency vibratory systolic murmur appreciated best at
the LUSB, normal S1/S2, Pulses Equal x4
GI: Habitus: Obese; Abdomen: Soft, non tender, non distended, normal bowel sounds; Additional findings: dark purple/skin
colored abdominal striae. No hepatosplenomegaly appreciated although difficult exam due to habitus. No hernias
appreciated
Anus: examined; Findings: normal
Rectal exam: examined; Findings: minimal stool in the vault
GU: examined; Findings: testicles normal size, no masses, sexual maturity rating stage V
Lymph Nodes: No palpable nodes neck
Musculoskeletal: Normal strength and range of motion RUE/LUE/RLE/LLE. Left proximal tibial contusion
Skin: Abdominal striae as noted above. Jaundiced complexion. Left proximal tibial contusion
Neuro: Sensation Normal , Coordination Normal
Psychiatric: Orientation A+O x 3, Judgment & Insight Age appropriate, Affect appropriate, Anxiety/Depression Not present
Development: Grossly normal for age
Summary statement

16-year-old male who presents with approximately 1.5

month history of bilious emesis, 40 pound weight loss over
2 months, one day history of jaundice appearance, physical
exam significant for jaundice appearance, labs at OSH with
both direct and indirect hyperbilirubinemia, elevated AST,
INR and right upper quadrant ultrasound showing biliary
sludge.
Labs Hematology
WBC: 4.8 K/mcL
Hemoglobin: 10.8 g/dL
Hematocrit: 32.9 %
MCV: 103.5 fL
Platelets: 133 K/mcL Low
Neutrophil % Auto: 68 %
Lymphocyte % Auto: 21.6 %
Monocyte % Auto: 7.9 %
Eosinophil % Auto: 1.7 %
Basophil % Auto: 0.4 %
Reticulocyte %: 3.53 %
Retic, Abs: 112.3 K/mcL
Retic Hemoglobin: 37.5 pg
Immature Reticulocyte Fraction: 9.2 %
ESR: 8 mm/hr
CRP (not for CV risk): 1 mg/dL
UA negative
***Lysis of RBCs seen on smear.
 Bilirubin Total: 17.5 mg/dL High
Sodium Level: 138 mmol/L Bilirubin Direct: 9.6 mg/dL High
Potassium Level: 3.8 mmol/L Bilirubin Indirect: 7.9 mg/dL High
Alk Phos: 141 unit/L
Chloride Level: 108 mmol/L AST: 98 unit/L High
CO2: 22 mmol/L ALT: 23 unit/L
Anion Gap (Na Cl CO2): 8 mmol/L GGT: 382 unit/L High
Amylase Level: 36 unit/L
Glucose Level: 131 mg/dL High Lipase Level: 24 unit/L (
BUN: 11 mg/dL Phosphorus Level: 2.6 mg/dL Low
Creatinine Level: 0.58 mg/dL
Coagulation/Thrombosis
Estimated Creatinine Clearance: Prothrombin Time: 22.8 seconds High
129.6 mL/min International Normalized Ratio: 1.9
Calcium Level: 8.1 mg/dL Low
Immunology/Serology
Protein Total: 4.5 g/dL Low Cerulo: 13 mg/dL Low
Albumin Level: 2.4 g/dL Low Alpha 1 Antitrypsin 164 mg/dL

Hep A Ab IgM: Nonreactive

Hepatitis C Virus Antibody: Nonreactive
Hep B Core Ab IgM: Nonreactive
Hep Bs Ag: Nonreactive
US Abd complete.

IMPRESSION:
1. Abnormally echogenic liver with
nodular contour, suggesting
cirrhosis. No intrahepatic biliary
ductal dilation appreciated.
Common bile duct is mildly
prominent, measuring 4 mm in
diameter.
2. Distended gallbladder containing
sludge. No cholelithiasis.
3. Splenomegaly, which may reflect
portal hypertension.
4. Small amount of free fluid in the
anterior right upper
quadrant and pelvis.
 Differential Diagnosis
GI ID / Immuno
• IBD with PSC • Viral hepatitis
• Alpha-1 anti-trypsin deficiency • Autoimmune hepatitis
• Wilson’s Disease
• Constipation
Heme
• Hemochromatosis

Genetic
• Alpha-1-antitrypsin deficiency
Wilson’s Disease
(hepatolenticular degeneration)
Results from a defect in hepatocellular copper transport, leading
to the accumulation of copper in the liver and other tissues,
including the brain. Over time, the damage from the
accumulation of copper results in the hepatic, neurologic, and
psychiatric manifestations
Epidemiology
• Wilson disease is found worldwide, with an estimated prevalence of 1 case
per 30,000 live births in most populations

• Assuming a prevalence of 1 in 10,000 to 30,000, approximately 1 person in 90

carries an abnormal copy of the ATP7B gene.

• However, in some isolated populations, the prevalence is much higher. One

of the highest reported prevalences was from a small mountain village on the
island of Crete, where Wilson disease was diagnosed in 1 in 15 births [3]. The
increased prevalence was likely due to high rates of consanguinity in the
isolated area.
Presenting patient has been diagnosed with
Wilson’s Disease.
• His genetic testing result indicate that he has two pathogenic mutations and one
variant of uncertain significance in the gene that encodes the protein that is
responsible for Wilson's disease.
• Arranging for genetic testing included:
o a review of the genetic testing report,
o filling out the necessary requisition forms for the clinical genetics testing
laboratory,
o discussing the process with mother,
o informed consent of the adult brother.
• These services were necessary for accurate genetic testing for the family, which
is recommended for all first-degree relatives of patients with Wilson's disease, as
well as prepare for genetic counseling.
Patient centered symptoms
• Fatigue, lack of appetite or abdominal pain
• Jaundice, a yellowing of the skin and the whites of the eye
• A tendency to bruise easily
• Fluid buildup in the legs or abdomen
• Problems with speech, swallowing or physical coordination
• Uncontrolled movements or muscle stiffness
Diagnosis
See
Leipzig scoring system for Wilson Disease
Not posted due to copyright restriction if link does not work
reference scoring system in UpToDate.
 Treatment

1. Trientene
2. D-Penicillamine
3. Oral zinc
4. Vitamin E 400 U daily
Nutrition
During the initial phase of treatment, patients should avoid consuming food with high copper content, in
particular shellfish, nuts (sesame seeds, cashews, sunflower seeds, hazelnuts, hemp seed, pine nuts,
walnuts, pistachio nuts), chocolate, mushrooms, and organ meats (no goose/duck/cow liver), no instant
breakfast/protein shakes.

Once therapy is ongoing and patients are doing well, moderating intake of copper can be acceptable.
Dietary restriction is insufficient as sole therapy for Wilson disease. It may be prudent to test drinking
water obtained from wells for copper content, or use appropriate filters that remove trace elements.
Municipal water supplies usually do not require analysis. Patients who have copper pipes in the household
should be advised to flush the system before using water for cooking or consumption. A detailed list of the
mineral content of foods is available on the US Department of Agriculture website.
https://ndb.nal.usda.gov/ndb/nutrients/index

Source: UpToDate.com and USDA website

***Dietary copper intake is approximately 1 to 2 mg per day , The daily requirement for copper is
approximately 0.75 mg.
Thank You