A poorly controlled diabetic with
elevated aminotransferases
Lesley B. Gordon, M.S., M.D.
Maine Medical Center, Internal Medicine Resident
ACP Annual Chapter Meeting, Bar Harbor, Maine
Clinical Vignette 2015
Overview of Initial Presentation
• 24 yo man with type 1 diabetes mellitus
• Presented to OSH ED on 12/26 with lower
extremity edema
• Admitted due to hyperglycemia
• Transferred to MMC on 12/28 with rising
transaminases
HPI at outside hospital
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6 months of LE edema
1 week of oozing from LE wounds
1 year of diarrhea
Intermittent RUQ pain
Worked up over the last 6 months for liver
disease
Past Medical History
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Diabetes mellitus, type 1
Hypothyroidism
Recently diagnosed liver disease
MVA (femur frx, skin grafting) as teen
Dirt bike accident (tib/fib frx with ankle
surgeries) several years ago
Social History
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Lives with grandfather and aunt
Toddler daughter
Everyday smoker
Rare alcohol use
Completed 11th grade
Not working
Physical Exam
Vitals: T 36.4, HR 96, BP 115/76, RR 18, 99% on RA
GenApp: Lanky chronically ill-appearing young man.
HEENT: No scleral icterus. Extremely poor dentition.
Neck: Supple, no LAD, no JVD.
Card: Regular rhythm, normal rate, no murmurs.
Pulm: No distress. CTAB.
Abdomen: Nondistended. + BS. Soft. Tender RUQ; cannot assess
hepatomegaly. No shifting dullness.
Extrem: + Anasarca. Symm pitting edema. + distal pulses.
Skin: Superficial, tender, erythematous erosions on lower extremities,
largest 8 cm on medial right shin. + tattoos. + skin grafts trunk.
OSH labs
12/26: CBC: WBC 5.9 / Hgb 11.9 (MCV 100.7) / plt 291
CMP: Bicarb 19/ AG 14/ BUN 19/ Cr 0.7/ Gluc 548/ Bili
0.1/ AST 118/ ALT 261/ AlkPh 197/ INR 1.0/ Alb 2.6
Prior imaging
Trends in Hepatic Enzymes
Hepatocellular Injury with
Hepatomegaly
Hepatitis
Infiltrative/Storage
Impaired venous flow
Alcoholic hepatitis
Viral hepatitis
Autoimmune hepatitis
Drug or toxin
Hemochromatosis
Alpha-1 antitrypsin defic.
Wilsons
Amyloid
Right heart failure
Budd-Chiari
Diagnosis of hepatocellular injury?
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Aminotransaminases ~ 50-100 x ULN
Later-peaking alkaline phosphatase
Normal synthetic function
Rapid resolution
Most consistent with:
Ischemic hepatitis
Patient’s course
Diabetes management.
Diuresis.
Wound care.
Diagnosis of steatorrhea; management.
Piercing headache  Head CT normal except
sinusitis.
• Facial CT; followed by total teeth extraction.
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Facial CT
Putting the pieces together
Diabetes
mellitus
Sinusitis
Atrophic
Pancreas
Cystic Fibrosis
Steatorrhea
Liver
Disease
Malnutrition
Cystic Fibrosis
• Pathophysiology: defect in CFTR
gene
• Definition:
– One typical clinical feature
– PLUS evidence of gene dysfunction or
mutations on both chromosomes
From: www.hopkinscf.org
Cystic Fibrosis: Adults
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Spectrum of phenotypes
Prevalence
Importance of diagnosing
How to identify these patients
Gilljam et al. 2004. Chest.
Nick et al. 2010. Am J Respir Crit Care Med.
Cystic Fibrosis: Our Patient
• Sweat chloride: Left 59 mEq/L; Right 53
mEq/L
• Gene N1303K
• Gene Mapping underway (JHU)
Osborne et al. 1992. Human Genetics.
CF liver disease
From: Degott et al 1999.
From: Zakhary et al 2011.
Lindblad et al. 1999. Hepatology.
Cheng et al. 2014. Cochrane Database of Syst Rev.
Update on patient
• Followed at CF clinic.
• Improved steatorrhea on replacement.
• Continues to have very poorly controlled
diabetes.
• Underwent TMA.
Learning Objectives
1. Review of pathophysiology and definition of
cystic fibrosis.
2. Include cystic fibrosis in your differential
diagnoses for adult patients.
References
Cheng et al. 2014. Ursodeoxycholic acid for cystic fibrosis-related liver
disease. Cochrane Database of Systemic Reviews 12: 1-11.
Gilljam et al. 2004. Clinical manifestations of cystic fibrosis among
patients with diagnosis in adulthood. Chest 126: 1215-1224.
Lindblad. 1999. Natural history of liver disease in cystic fibrosis.
Hepatology 30: 1151-1158.
Nick et al. 2010. Effects of gender and age at diagnosis on disease
progression in long-term survivors of cystic fibrosis. Am J Respir Crit
Care Med 182: 614-626.
Osborne et al. 1992. Incidence and expression of the N1303K mutation
of the cystic fibrosis (CFTR) gene. Human Genetics 896: 653-8.
Zakhary et al. 2011. Adult-onset cystic fibrosis in an African-American
male. Radiology Case Reports. (Online) 6: 500.
Thank you
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Dr. Steve Hayes
Drs. Ellis Johnson, Edmund Sears, Alan Kilby
Warene Eldridge
American College of Physicians Maine Chapter
MMC Internal Medicine residency program