Medical Mystery # 1:  MM#1 is a 31 Year Old Man with Multiple Embolic Events of Undetermined Cause Since February 2010

INTRODUCTION TO THE VHC MEDICAL MYSTERY SERIES

Welcome to Medical Mysteries.  What is your diagnosis and treatment plan?

This is the first in our series of case discussions that are designed to help folks work around the barriers they have found in their quest for best care and treatment of a specific life, limb, or organ threatening medical problem.

Please help us find the definitive diagnosis and treatment plan for MM#1, our First Medical Mystery.  We have been struggling to help him get a definitive diagnosis and therapeutic plan since his first stroke in February 2010. 

Chief Complaint: I need a definitive diagnosis and therapeutic plan to help me manage the recurrent embolic events I have been having since February 3, 2010

31 year old, married (no children) white male. With multiple embolic events of undetermined cause

Medical Mystery #1: Narrative summary

Present Illness:  MM#1 was in his usual stable and functional state of health until 2/3/2010, when he awakened with severe headache and slurring of speech.

Since that date he has demonstrated several, embolic strokes and an MI.

History of random, uncontrolled embolic events that has produced 4 ischemic strokes, 1 myocardial infarction and is strongly suspected in significant renal scarring resulting in Stage 3 renal failure.  To date no definitive cause for these clots has been determined and no certainty current treatment will control future events.

Ischemic cerebral events occurred on 2/3/10; 7/12/10; 7/28/10 (these three events are thought the same clot progressed further in the artery, rather than 3 separate embolic events).  4^th stroke 10/14/13.  8/31/15 MI (blood clot in main artery) treated with interventional cardiac catheterization and stent placement.

Multiple tests to determine source of clots have all been negative (bubble studies, trans esophageal echo cardiograms (TEE), Cardiac MRI/A).  Hypercoagulable studies completed several times.  Only findings of significance are; Factor VIII was elevated (range: 61-158%…my result 171).  In addition the VWF activity (Ristocetin Cofactor) was elevated (range: 40-220%…my result 320), MM #1 is heterozygous for the MTHFR A1298C Mutation and negative (normal) for the C677T mutation in the MTHFR gene.

Thromboelastogram?

Serum Protein Electrophoresis?

SIGNIFICANT PAST MEDICAL HISTORY:

Diagnosed with Leber’s congenital amaurosis (retinal dystrophy) at 4 months of age at University of Chicago, received visual services in several states (WI, Mo, IL, NM) but no remedial treatment.  Wears glasses for magnification, is a Braille reader. No recorded history of blindness in either parent or in their extended families.

Medically unremarkable adolescence and early adulthood.  Attended college and currently works for city police department in the Southwest.

Family history:

MM#1’s parents are both alive with no remarkable medical histories.  He has two siblings…older brother by 2 years with normal vision and health.  Younger brother also had visual retinal dystrophy not as severe, in addition younger brother contracted acute lymphocytic leukemia and died 06/2012 at 15 years of age.  No history of leukemia or other significant cancers in family prior to this.

Please send your questions, comments, suggestions, suggested differential diagnosis, Recommended Diagnosis and Treatment plans to

mfmascia@VeritasHC.org

or

post comments on this blog for further discussion and recommendations.  We prefer that you keep your name OFF the blog comments and submit details by email for purposes of patient and physician confidentiality.

Respectfully submitted by Michael F. Mascia, MD, MPH on behalf of MM#1

UPDATE March 25, 2016

Useful Suggestions From Physicians to date:

1. Paroxysmal afib until proven otherwise. Did not see long term outpatient cardiac rhythm monitoring in the work up. Needs loop recorder or similar.

2. Clinical history points to repeated arterial clotting events. Hyper-coagulation screen was performed with no definite answers, therefore suggest a) auto-immune screen (anti-nuclear factor), b) exclude presence of lupus anticoagulant, and c) anti-cardiolipin titre.
Lifelong anti-coagulation appears to be the way forward, either warfarin (target INR 2.5-3.5) or rivaroxaban.

There have been no suggestions from patients.

Social media has given no responses to date.

Exploring other options, but SERMO seems to be most useful pathway to date.

MFM