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