November 10-15

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ACR Convergence 2023

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Home // Curbside Consults offers glimpse into trio of rare diseases

Curbside Consults offers glimpse into trio of rare diseases


4 minutes

A popular feature of the Annual Meeting, the Curbside Consults: Ask the Professors session this year featured three professors addressing some rare and difficult-to-diagnose diseases they have treated.

Michael Ruckenstein, MD, Professor and Vice Chair of Otorhinolaryngology and Head and Neck Surgery at the University of Pennsylvania in Philadelphia, described the salient features of autoimmune inner ear disease.

“Autoimmune inner ear disease has been defined as rapidly progressing — meaning not sudden but rapidly progressive hearing loss evolving over a period of weeks to months. It is typically bilateral, but the bilaterality doesn’t have to be simultaneous. In fact, it typically begins in one ear, and then the other ear goes,” Dr. Ruckenstein said.

“Most importantly, there is a true response to oral prednisone. It may also be associated with a systemic autoimmune disease. There are no characteristic laboratory abnormalities for this entity. Other than steroids, there are generally no evidence-based treatments.”

He advised rheumatologists to order a test for tertiary syphilis in trying to establish a diagnosis of autoimmune inner ear disease because syphilis does occur in some patients.

“You cannot predict who’s at risk for syphilis, so everyone gets the test,” he said.

The most common systemic autoimmune disease associated with this inner ear disease is granulomatosis with polyangiitis, formerly known as Wegener’s disease. It attacks the middle and inner ear. Patients develop chronic otitis media, draining ears, perforated drums, sensorineural hearing loss, and vertigo.

“In the treatment of autoimmune inner ear disease, steroids work. And they can work quite dramatically. Most experts agree that cyclophosphamide works. Methotrexate may or may not work. The only randomized, controlled study of methotrexate showed it didn’t work, but the study was found to be flawed,” Dr. Ruckenstein said.

Daniel L. Kastner, MD, PhD, Head of the Inflammatory Disease Section, Scientific Director, and Head of the Division of Intramural Research at the National Human Genome Research Institute at the National Institutes of Heath, described recurrent idiopathic pericarditis.

“Acute pericarditis is defined as an inflammatory pericardial syndrome with two of the following: Pericardial chest pain, pericardial rubs, new widespread ST-segment changes on an electrocardiogram, and new or worsening pericardial effusion on imaging,” Dr. Kastner said.

Recurrent idiopathic pericarditis is defined as a documented first attack of acute pericarditis with a symptom-free interval of at least four to six weeks and evidence of recurrence.

“Twenty percent of patients who were treated for acute pericarditis have at least one recurrence, so this is not a rare thing,” he said.

Recurrent idiopathic pericarditis causes include infections, especially viral infections, systemic inflammatory disease, pericardial injury syndromes, and auto-inflammatory diseases.

Among the auto-inflammatory diseases, familial Mediterranean fever and the TNF receptor-associated periodic syndrome are most commonly associated with recurrent idiopathic pericarditis. Colchicine is the drug of choice for familial Mediterranean fever, and IL-1 inhibitors are effective in patients who are unresponsive or intolerant to colchicine.

Treatment of recurrent idiopathic pericarditis should begin with non-steroidal anti-inflammatory drugs.

“Corticosteroids can be used, but often they are limited by their toxicity. If you do use steroids, you have to use a very slow taper,” he said.

Colchicine used in combination with non-steroidal agents reduces the rate of recurrence by about 50 percent, Dr. Kastner said.

“Azathioprine could be used as a steroid-sparing agent. It doesn’t work rapidly, and you won’t see an effect oftentimes for a month. Intravenous gamma globulin can also be used and has a more rapid effect, but you have to worry about side effects. Anakinra is effective in colchicine-resistant, corticosteroid-dependent recurrent idiopathic pericarditis,” he said.

Vascular Ehlers-Danlos
Peter H. Byers, MD, Director of the Center for Precision Diagnostics and the Collagen Diagnostic Laboratory at the University of Washington in Seattle, addressed the diagnosis and treatment of vascular Ehlers-Danlos syndrome, a group of connective tissue disorders that are characterized by unstable, hypermobile joints, loose, “stretchy” skin, and tissue fragility.

A clinical examination of patients with this syndrome might show that the skin in the hands seems thin, the joints lax or soft, the blood vessels visible in the hand, and wrinkling on the palms and fingers. The patient’s eyes may be recessed or prominent, veins may be visible on the forehead, the hair may look fine and thin, and the nose and lips may appear thin.

Management of these patients should include a team involving the primary care physician, a vascular surgeon, a general surgeon, and an Ehlers-Danlos specialist. Care is local, and communication is vital, Dr. Byers said.

“There are several kinds of treatment for these patients,” he said. “Blood pressure control is required. You can use anticoagulation after dissection occurs in an area such as the renal artery or the carotid, where maintenance of blood flow is absolutely critical to organ function.”

Dr. Byers said that surgical intervention with endovascular stents has generally replaced open surgery. Invasive surgery is possible, if necessary, but the vessels are friable, and the surgery is very difficult. With bowel rupture, the usual treatment is to create a colostomy and restore the bowel to normal function.