Irina Litvin, D.O.

I work in a hospital that serves an impoverished, medically underserved community. It is not uncommon to see patients who have not been treated for lingering health issues. 

In this case study, the patient is a 40-year-old Afro-Caribbean female with a history of cerebrovascular accident (CVA) with residual left upper extremity hemiparesis as well as Guillain-BarrÃ© syndrome requiring intubation and intravenous immunoglobulin (IVIG). On this admission, she presented with new onset of left foot drop with associated numbness and tingling; and, urinary incontinence.

Physical exam revealed stable vital signs, decrease in sensation over the left side of her face and body with diminished muscle strength of the left lower extremity, left tongue deviation, and dry mucocutaneous membranes, especially eyes and oral cavity.

Her complete blood count and comprehensive panel were within normal limits. She was tested for serological markers, and found to have positive anti-nuclear antibody (ANA), SSA, and SSB. The imaging of the spine revealed hyperintense lesions in T12 and the conus medullaris (as shown below).

A lumbar puncture was performed revealing a pleocytosis in the cerebrospinal fluid (CSF) with atypical lymphocytes. The differential at this time included autoimmune diseases with neurological manifestations, malignancy, and infectious processes, such as Epstein-Barr Virus. Given her clinical presentation and workup including labs, imaging, and lumbar puncture, malignancy and infection was lowered on the differential once the flow cytometry showed no cells concerning for lymphoma/ leukemia.  Once that was decided, she completed a three-day course of Methylprednisolone (Solu-Medrol) 1,000 mg (pulse dose-steroids) and plasmapheresis with marked improvement in physical function.

Anti-aquaporin-4 antibody (AQP4-Ab) was positive for neuromyelitis optica (Devic’s disease), a rare inflammatory autoimmune disease of the central nervous system, specifically of the spinal cord and optic nerves. The patient was continued on oral prednisone and started treatment with rituximab.

A bedside ultrasound of the parotid glands revealed non-homogenous glandular tissues supporting a diagnosis of Sjogren’s syndrome.

Both Neuromyelitis optica and Sjogren’s can cause severe CNS manifestations. It is conceivable that they are a spectrum of diseases on the same continuum. This also helps us to postulate that the presence of AQP4-Ab should be explored in all Sjogren’s patients, as it can alter their disease course. The treatment for both entities is similar and involves immunosuppression. However, it is imperative to tailor the treatment to each specific patient, as the disease has marked variations. 

Irina Litvin, D.O., is a physician and rheumatology fellow at SUNY Downstate in Brooklyn, N.Y.

Komai T, Shoda H, Yamaguchi K., et. al.  “Neuromyelitis optica spectrum disorder complicated with Sjogren syndrome successfully treated with tocilizumab: A case report, “ 

. DOI: 10.3109/14397595.2013.861333. E-Pub 2013 Dec 9.

Waters P, Jarius S, Littleton E, Leite MI, et al. "Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis," 

. July 2008. DOI:  10.1001/archneur.65.7.913

Dr Romain Marignier, MD, Pascale Giraudon, PhD, et al., "Anti-aquaporin-4 antibodies in Devic’s neuromyelitis optica: therapeutic implications," 

Therapeutic Advances in Neurological Disorders

. Sept. 2010. DOI:  10.1177/1756285610382478 

Articles

In this case study, Dr. Litvin presents a complicated case of neuromyelitis optica (Devic’s disease), a rare inflammatory autoimmune CNS disease affecting the spinal cord and optic nerves.

Case Study:  Devic’s Disease and Sjogren’s Syndrome

As physicians we rely heavily on the physical exam to help compose a top notch differential. We trust our senses to help lead us in tough cases. As rheumatologists, every nail bed and skin fold serve as potential clues in guiding us to a diagnosis. What happens when the physical exam leaves questions unanswered? Here is a case of a young male with clinical manifestations that fit multiple disease patterns.

Patient is a 46-year-old male with uncontrolled hypertension and long-term Raynaud’s phenomenon presented with altered mental status, facial droop, dysarthria and diplopia. Initial diagnostic work-up revealed acute hemorrhagic stroke, unclear if hemorrhagic transformation of infarct versus primary, as well as hypertensive emergency. He was admitted to the intensive care unit with aggressive control of blood pressure. Once stable and improved, patient was downgraded and subsequently discharged to a rehabilitation facility.

Several weeks later, patient presented again with uncontrolled hypertension, bizarre behavior, dysphagia and memory deficits with involuntary limb movements requiring readmission to the ICU. This time, suspicion was raised for possible autoimmune encephalitis.  A lumbar puncture was performed but was limited due to the small sample received. He was treated with pulse-dose methylprednisolone and IVIG over the course of hospitalization with some clinical improvement. While his mentation improved somewhat, his blood pressure continued to be of high concern. A detailed serologic workup revealing RNA polymerase three antibodies and was diagnosed with scleroderma sine scleroderma (ssSSc) with renal crisis.

Scleroderma sine scleroderma is a published entity with numerous case reports in medical literature.  It is thought that approximately 10 percent of those diagnosed with systemic sclerosis do not have obvious skin induration, thus referred to as “sine scleroderma.” Renal involvement in systemic sclerosis has a poor prognosis, and in combination with underlying Raynaud’s, can cause cerebral vasoconstriction and ischemic changes. There is no indication for steroid treatment in these patients, and the treatment is maximizing angiotensin-enzyme inhibitors and calcium channel blockers in hopes of increasing vessel dilatation.

The red arrows highlight the diffusion sequence imaging of two ischemic cerebral events, simultaneous and in separate parts of the brain.

Hadi Poormoghim, Mary Lucas, Noreen Fertig, Thomas A. Medsger Jr. "Systemic sclerosis sine scleroderma: Demographic, clinical, and serologic features and survival in forty-eight patients," 

February 2000. DOI: 10.1002/1529-0131(200002)43:2<444::AID-ANR27>3.0.CO;2-G

Diab S, Dostrovsky N, Hudson M, et. al. "Systemic sclerosis sine scleroderma: a multicenter study of 1417 subjects," 

. November 2014. DOI: 10.3899/jrheum.140236. Epub 2014 Oct 1.

A patient with uncontrolled hypertension, long-term Raynaud’s phenomenon, altered mental status, facial droop, dysarthria, diplopia and renal crisis. 

Case Study:  Scleroderma sin Scleroderma

It's 4:45 p.m. and I'm wrapping up with my last patient of the day. There’s a commotion at the nursing station about a late appointment. “Would the doctor still see my daughter?” a woman asked.

This is a new patient:  a 30-year-old female accompanied by her mother and a 5-year-old girl. They’re apologetic and explain they just arrived from John F. Kennedy International Airport from the Caribbean.

The daughter says she's been having worsening shortness of breath with skin photo sensitivity and joint pains. She’s been treated by to two physicians in her hometown, had labs drawn and was given oral tablets (unable to recall name). The labs show that she has positive serologies for systemic lupus erythematosus and chikungunya. I review the previous diagnoses with the daughter and her mother, but they stare at each other in disbelief and surprise. The daughter is escorted to the emergency department for treatment of dyspnea. She has been struggling to breathe and has been in pain for several weeks without proper medical care.

Chikungunya is a single-stranded RNA virus spread by tropical mosquito vectors. The incubation period lasts several days, with abrupt clinical onset between day seven and 10. Anti-CHIKV IgM antibodies can be detected in patients from 4-6 days and remain detectable for weeks to months. Patients may present with fevers, joint pain, muscle pain, rash and conjunctivitis with laboratory abnormalities including leukopenia, thrombocytopenia and elevated inflammatory markers. Chikungunya is an African word meaning “to walk bent over,” which is a fitting description as it can lead to a great degree of joint pain. Though this particular patient did have a positive indirect measles immunoglobulin M (IgM) serology test, the labs were drawn two months ago making an acute infection far less likely. 

The patient stated that she had a first degree relative with systemic lupus erythematosus (SLE), which is common in the African American and Afro Caribbean population. During her hospitalization, she had an extensive workup revealing serositis with low compliments and high titers of double-stranded DNA confirming our suspicions of an active lupus flare. She did well with a course of steroids and discharged with hydroxychloroquine. The patient has a follow up clinic appointment to monitor her progress and manage her care.

Rheumatologic diseases are distinct and just one disease can manifest itself with a multitude of diagnosable health problems requiring tailored therapy – which can cost patients thousands of dollars each month. Regrettably, many patients cannot afford the price of healthcare and suffer in silence while their disease progresses.

We see many of these patients at our hospital which is not a luxurious hospital with peaceful waterfalls and Rodin statues. Inner city hospitals like ours are well-oiled machines with churning wheels. Our mission is to provide superior care for patients who come from near and abroad.

Irina Litvin, D.O., is a physician and rheumatology fellow at SUNY Downstate in Brooklyn, N.Y. 

Diagnosed with systemic lupus erythematosus and chikungunya, a woman embarks on a cross-continent trip for treatment and diagnosis at a city hospital.

Case Study:  Chikungunya and Lupus, an Ill-Fated Diagnosis

Joseph C. Kvedar, M.D., director of the Center for Connected Health at Partners HealthCare System in Boston, opened the American College of Rheumatology annual meeting in Washington, D.C. on Saturday.

 a book that describes how technology can be used to improve healthcare delivery.

He demonstrated the concept by using SAM virtual support. SAM's job was to intervene and remind the patient, for example, not have that cookie by saying “Save the calories for wine at dinner, Joe." Or, SAM served as a reminder that your favorite exercise activity was on sale for half price at the gym. This is a fantastic idea.

SAM connects work and life schedules with personal goals. He reminds users to walk a little after lunch since your next meeting doesn't start for another 15 minutes, for example. It is a brilliant and innovative way to deliver healthcare to device-addicted patients. This is a fantastic way of giving patients the ability to dominate their health and stay on track, while feeling in control the entire time.

I found myself nodding feverishly to Dr. Kvedar's statement that patients do not want to disappoint their physicians, which I've found that to be true. I've had patients miss an appointment because they didn't take their new medication or go to their referred consultation. Instead, they'll miss our visit and present at the next visit as if we didn't just miss a month.

Patients feel palpable tension in the exam room if they didn't do as they were told. Their guilt hangs in the air with heaviness. That's why they feel it's easier to skip an appointment.

By integrating this new technology, patients will feel a greater sense of strength in making the right decision. I think of it as a pocket coach who has a voice and your best interests at heart.

We live in progressive times. It's OK to modify our approach to patient care, which I think is necessary. By integrating this idea our reach as physicians will not stop at the door of a scheduled 99213 encounter.

Our advice and recommendations will be ushered into the patient’s home. We’ll be able to rouse them during their morning breakfast meeting or afternoon slump. I owe Dr. Kvedar and his team a thank you for taking on this enormous task.

ACR/ARHP Opening Lecture:  "Harnessing the Internet of Healthy Things:  How Connected Health Can Advance Rheumatology," Joseph C. Kvedar, M.D., 4:30, Nov. 12, 2016. ACR 2016 Annual Meeting. 

How the “The Internet of Healthy Things” is improving healthcare delivery.

Author | Irina Litvin, D.O.

Articles

Case Study: Devic’s Disease and Sjogren’s Syndrome

Case Study: Scleroderma sin Scleroderma

Case Study: Chikungunya and Lupus, an Ill-Fated Diagnosis

ACR 2016 Opening Talk: Healthcare via Smartphone