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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
• 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
• 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
• 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 Alcoholic hepatitis Viral hepatitis Autoimmune hepatitis Drug or toxin
Infiltrative/Storage Hemochromatosis Alpha-1 antitrypsin defic. Wilsons Amyloid
Impaired venous flow Right heart failure Budd-Chiari
Diagnosis of hepatocellular injury?
• 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.
Facial CT
Putting the pieces together
Diabetes mellitus
Steato-rrhea
Atrophic Pancreas
Sinusitis
Liver Disease
Malnutr-ition
Cystic Fibrosis
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
• 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
Lindblad et al. 1999. Hepatology. Cheng et al. 2014. Cochrane Database of Syst Rev.
From: Zakhary et al 2011.
From: Degott et al 1999.
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
• Dr. Steve Hayes • Drs. Ellis Johnson, Edmund Sears, Alan Kilby • Warene Eldridge • American College of Physicians Maine Chapter • MMC Internal Medicine residency program