LA Patient Conference 2016

Hello all!
The FSR LA Patient Conference was a really good event. Here are my notes from the sessions. I jotted down the notes as I heard them and while I am fairly confident with the accuracy, there may be some inaccuracies if I did not hear the speaker correctly.

That said, it will give you a flavor for the content of the conference. I hope you find this helpful.
Mark

There are 4 summaries contained on this page:

  • Dr. Bob Baughman, University of Cincinnati
  • Dr. Ennis James, Medical University of South Carolina
  • Dr. Marc Judson, Albany Medical College
  • Panel Discussion

Sarcoidosis Presentation and Diagnosis by Dr. Bob Baughman, Univ of Cincinnati

  • Prednisone and Corticotrophin are the only two drugs approved for the treatment of Sarcoidosis.
  • There are no drugs approved for cardiac associated pulmonary hypertension.
  • There are no FDA-approved drugs for Sarcoidosis related fatigue.
    • But this is a major symptom for many patients and it is real.
  • How to Diagnosis Sarcoidosis?
    • Biopsy samples for granulomas provide definitive proof
      • But don’t work well for cardiac patients
    • Looking at the clinical presentation of patient
      • However, the way Sarcoidosis presents varies from patient to patient, so diagnosis with clinical presentation alone is not sufficient
    • We are never 100% sure of diagnosis of Sarcoidosis
      • Pathology alone is not sufficient to make diagnosis
      • Some clinic presentations are highly characteristic of Sarcoidosis
      • In general, the longer a patient is followed, the increased confidence of a diagnosis of Sarcoidosis
  • What informs the Diagnosis for Sarcoidosis
    • Find non-caseating granuloma
    • There are no other causes for granuloma masses than Sarcoidosis (TB and Beryliume can present like sarcoidosis)
    • Granuloma is a cluster of damaged cells. The center of the granuloma is the cause of the disease.
    • In liver, granuloma are almost always non-caseating.
      • In skin, can be seen as reaction to foreign body (splinter).
  • How to Get the Tissues?
    • Biopsy
      • Bronchial
      • Trans-bronchial
      • Needle biopsy
      • Bronchoalveola lavage
      • Culture to rule out other causes of granulomous disease
  • Other Tissue to Biopsy:
    • Common: skin, liver, lymph nodes, bone marrow
    • Less common (more dangerous): Brain, heart , eye
    • Look at skin for small lesions – could be a sign of sarcoidosis
  • Access Study
    • 10% take more than a year to diagnose
    • See an average of 4 docs before diagnosis
    • Diagnosis often takes > 6 mos.
  • Clinical Presentation Ranges
    • 40% of patients have no symptoms (abnormal chest x-ray, spot on skin)
    • A relatively low (5%) of lung-affected patients die from disease usually from advanced fibrotic lung disease
  • Lungs
    • Four patterns on x-ray
    • Stages 1-4 (don’t like the term “stages” because it can manifest in so many ways and reverse)
    • X-ray has nothing to do w/ the disease outside the lungs
    • Stage 4 = scar tissue
    • 90% chance of normal chest x-ray in 2-5 years with treatment
    • 40% of patients with normal chest x-ray can still be short of breath
  • How to Diagnose Sarcoidosis
    • Lofgren’s Syndrome not Sarcoidosis (painful ankles but goes away in 2-4 weeks)
      • Sarcoidosis could be the cause
    • Lupus pernio – caused by Sarcoidosis???
    • Granuloma in eye
    • Dermatologist: Skin lesions with positive xray is indicative of Sarcoidosis
    • ACE
    • BAL
    • CT Scan (adenopathy)
    • PET scan – use radioactive sugar mix to light up presence of granulomous mass/scar tissue
    • MRI – whiteness in bone (50% with this have pain)
  • Cardiac Sarcoidosis hard to diagnose
    • Often an event
    • More CS showing up in 40% in some studies
    • Cardiomyopathy (weak muscle) determined by ECG and looking at Ejection Fraction (EF)
    • Arrhythmias: often results in implantation of a pacemaker/ICD. Confirmed with EchoCG
  • Presentation
    • PET enhancement of myocardium
    • Gallium enhancement of myocardium
    • Ventricular arrhythmia
    • Cardiomyopathy

Treatment Options Presentation by Dr. Ennis James

  • Pathogenesis of Sarcoidosis
    • What happens w/ Sarcoidosis
    • Trigger? Leads to inflammation which leads to granuloma which leads to mass which leads to fibrosis which leads to organ failure
  • Granuloma Formations
    • Antigen triggers the disease which travels into blood vessels and formation of cytokynes that tell White Blood Cells to go to granuloma.
    • Fibrosis = Organ damage
  • Reasons NOT start on therapy
    • When the benefits of therapy are not clear
    • When side effects will be significant
    • 75% of patients with stage 1 & 2 (in lungs) will resolve w/out therapy
  • When to Start Therapy?
    • Severe symptoms
    • Organ threatening disease progression
      • Uveitis, kidney, heart, CNS, lung
  • Factors for Poor Outcomes
    • African American
    • Over age 40
    • External to lung
    • When 3+ organs are involved
    • If Cardiac or bone
    • Liver and spleen
    • Pernus lupio
  • Balancing Side Effects with Outcomes
    • Every patient is different, so there is no predictable outcome
  • Treatment Options
    • One organ (usually the most severely affected) will drive the therapy
    • Pulmonary usually treatable with good outcomes
  • Case Study: 30 yr old w/ stage 2 Pulmonary Sarcoidosis
    • Significant symptoms (sob, cough)
    • Ruled out other causes
    • Prednisone: Started at 20mg and taper every 6-8 weeks
      • No need to start Pulmonary Sarcoidosis treatments with more than 20-30mg Prednisone
      • High dosage of Prednisone can result in
        • Weight gain
        • Rise in blood pressure, eyes, diabetes, thinning of bones
      • Patient tapered to minimum dosage then off completely w/out relapse
  • Case Study: 45 year old w/ Stage 3, proven pulmonary Sarcoidosis
    • Prednisone didn’t work
    • Second line therapy:
      • MTX – start at 10mg up to max of 25mg (GI side effects? WBC count, liver function, and could inflame lung condition
      • Take Folic Acid to min
      • MTX takes 6 weeks to 6 months to be effective
      • Leflunomide (higher risk of infections than MTX, not effective)
  • Case Study: 40 yr old, Stage 4 lung involvement
    • No response to Prednisone
    • Liver problems w/ MTX
    • Infliximab (Remicade injections) reduces Cytokynes which reduce inflammation
    • Humira (injection) – could lead to TB if present
    • Resolved many of symptoms w/ time Acthar Gel
    • Stimulate prod of edogenic steroids (body produces its own steroid)
    • With Cardiac Involvement, there will be higher dose of steroids
      • Prednisone (Start w/ 30-60mg)
      • MTX
      • Mycopeholate
      • Cylophosphamide (last ditch effort due to side effects)

How Do We Get Rid of Granulomas by Dr. Marc Judson 

  • Para-Sarcoidosis
    • Para-Sarcoidosis occurs when symptoms and or dysfunction in Sarcoidosis not in direct relation to deposition of Sarcoidosis granuloma’s
    • No objective test and docs feel uncomfortable w/out an object test
    • Some variables can’t be monitored by testing
      • Vitamin D 125 (not typically measured)
      • Erythemos dodosum
      • Fatigue
      • Small fiber neuropathy
  • Activating Vitamin D inside granuloma could result in kidney damage or stones
    • Treat w/ hydrations, citrates (citrus fruits) in diet,
    • Anti-granulomatous therapy: corticosteroids, hydroxyl cholorine
    • Approach to Vitamin D and Calcium
      • Need to monitor Vitamin D both 25 and 125.
      • 125 harder to test, but more important
      • Calcium deficiencies could cause bone issues
  • Lofgrens Syndrome sometimes occurs with Sarcoidosis
    • Large nodes in lung and painful skin lesions on skins
  • Small Fiber Neuopathy
    • This is a big problem
    • Not from granuloma’s
    • Don’t know cause but granuloma’s could be releasing mediator or chemical into the body that causes this
    • Skin biopsy
    • Something destroying nerves causing pins and needles, sweating, etc
    • Many treatments including: IVIG, Infliximab (remicade), ARA 290 (new treatment still under investigation. A hormone to increase red blood cell count
  • Sarcoidosis and Fatigue
    • 70% of Sarcoidosis patients suffer fatigue
    • May be related to inflammatory mediators released by granuloma’s
  • Potential Causes of Fatigue in Sarcoidosis Patients
    • Sleep disorders
    • Adrenal insufficiency
    • Mood disorders
    • Hypothyroidism
    • Sarcoidosis –associated fatigue
  • Other
    • Cognitive decline
    • Parasarcoidosis is real, common respiratory impairment often don’t respond to conventional therapies

Panel Discussion

  • Fibromyalgia Sarcoidosis – Pain in the joints is real
    • Neuro Sarcoidosis
    • Bels palsy goes away in 2-6 weeks but is a clue for Sarcoidosis
    • MRI with contrast to determine
  • Potential Causes of Sarcoidosis
    • Moldy environments and Healthcare professions
    • Firefighters, people living along coastline
    • Infections may cause Sarcoidosis
    • Form of bacteria on the skin
    • Double blind placebo controlled study w/ Sarcoidosis patients in eye
    • Embril works same for Rheum Arthritis, but not for Sarcoidosis.
    • Because something works to control a symptom in one disease does not mean that it will work for Sarcoidosis
  • Is it hereditary?
    • There are certain genetic predispositions. 1 in 6 in blacks, or 1 in 20 in whites
    • A 5-10% that another family member COULD get sarcoidosis.
    • Very rarely occurs in childhood.
    • Think of Sarcoidosis as already present in multiple organs. That’s another reason why it is not really a Stage 1, 2, 3, etc… disease.
    • Biopsies may not be necessary when multiple organs display symptoms and presence of Sarcoidosis
  • Does Sarcoidosis cover up other diseases?
    • Other Problems aren’t “due” to Sarcoidosis
    • Underlying infections can create additional problems
  • Can it go away for good?
    • Most is self-limiting and can go away
    • Routine form of InActive Vitamin D is 25
    • Active form of Vitamin D is 125 Hydroxy
    • Vitamin panel needs to be done in concert w/ Vitamin D due to Kidney stones
    • 88% have low Vitamin 25, in a 300 person study, only 1 had low and 30% that group had high incidence of kidney stones and kidney failure
  • Skin Sarcoidosis
    • Has no serious health consequences
    • Relatively easy to treat with topicals
    • Decreased sexual desire and function is a common complaint, but may not be the Sarcoidosis. Could be other factors. Testosterone can be suppressed by Prednisone. Brain can also affect hormone production.
    • Sleep Apnea is common with Sarcoidosis and it is possible that Sleep Apnea could exacerbate Sarcoidosis.
  • How often have you seen Sarcoidosis in concert w/ other auto-immune diseases
    • Depends how you define Sarcoidosis. Which came first the chicken or the egg?
  • Very important for patients to be involved on the FSR Patient Registry:
    • Need more data on patients
    • Need to learn the Trajectory on how Sarcoidosis affects patient’s lives
    • New Study on App
    • Advanced Sarcoidosis disease interviews w/ multiple demographics.

SUMMARY:
If you have Sarcoidosis, you have a unique disease that could be passive or aggressive. Find good doctors that know your disease. Give them all the data you can. Be an advocate for disease research. Sarcoidosis is the poor kid on the block when it comes to research funding. Support the cause and support one another.

I hope you found this summary helpful.
All the best,
Mark

P.S.  FSR asked me to present my story and strategies for coping and recovery at the LA Patient Conference. I’m in my 5th year with Cardiac Sarcoidosis and in the last year have done remarkably well. My recovery has been miraculous actually. My story of coping, recovery and continuing to recover is documented in my new book Getting Better. 100% of the net proceeds go to FSR toward research and patient assistance. You can order your copy right on this site where the maximum donation goes to FSR.

(NOTE: Sales on Amazon do not credit anything toward FSR.)