Chiefs’ Inquiry Corner – 9/20/2022

September 20, 2022

Chief residents of the NYU Langone Internal Medicine Residency give quick-and-easy, evidence-based answers to interesting questions posed by house staff, both in their clinics and on the wards.

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Most patients with essential thrombocythemia harbor a mutation in one of three genes: JAK2 V617F (60%), CALR (20%) or MPL (3%). The disease is associated with an increased risk of thrombosis. Risk of thrombosis is estimated based on the presence of a JAK2 mutation, history of thrombosis, age older than 60, and cardiovascular risk factors; risk can be stratified into very-low, low, intermediate, and high risk. Low dose aspirin therapy is the cornerstone of treatment, except for those with very-low risk disease, and cytoreductive therapy with hydroxyurea or interferon alfa-2a should be initatied in those with high-risk disease. When used, the dose of cytoreductive therapy should be adjusted to target a platelet count of 100,000 to 400,000. Acquired von Willebrand Syndrome may be seen in patients with platelets > 1 million and may predispose to bleeding – important to rule out prior to starting treatment in patients with platelets at these levels!

References: Essential Thrombocythemia
Cutaneous lupus erythematosus (cutaneous LE) can occur as a manifestation of systemic lupus erythematosus (SLE), but frequently exists independently of SLE and maybe two to three times more prevalent.  The most common type of cutaneous LE is discoid lupus erythematosus (DLE). In patients with DLE, progression to SLE occurs most often in the first few years after a DLE diagnosis, with a 10 percent probability of getting a new SLE diagnosis within one year and a 17 percent probability within three years. Risk factors for progression include an increasing number of clinical and serologic features of SLE: more widespread DLE lesions, arthralgias and arthritis, high antinuclear antibody (ANA) titers, leukopenia, and high erythrocyte sedimentation rates.

References: Discoid Lupus Erythematosus
Recurrent attacks of Bell’s Palsy on either the ipsilateral or contralateral side have been observed in 7 to 15 percent of patients, with mean time to recurrent of approximately 10 years. Given that recurrence is relatively rare, alternative etiologies should be considered at time of recurrence. In one referral center series, one-quarter of 53 patients with recurrent Bell’s palsy were found to have an alternative etiology, most commonly Melkersson-Rosenthal syndrome, neurosarcoidosis, or facial nerve schwannoma. Melkersson-Rosenthal syndrome is a rare condition with a female predominance characterized by recurrent episodes of facial paralysis, episodic facial swelling, and a trifid fissured tongue; granulomatous inflammation is seen in the edematous tissue. A genetic origin has been suggested, but the cause is unknown and treatments unproven.

References: Recurrent Bell’s Palsy