A mysterious case of parasitic myositis from Australia was the clear audience favorite during Sunday afternoon’s Thieves’ Market clinical symposium, a special session featuring several short presentations on clinical cases relevant to rheumatology.
The case, voted No. 1 by the audience in a text poll, came from Royal Hobart Hospital in Tasmania, Australia.
The physicians think they might’ve uncovered a new nematode, or roundworm, after treating a 71-year-old male who had eaten Tasmanian bushmeat. He was initially referred to the rheumatology clinic because of a nine-month history of myalgia and proximal weakness.
Tests, including a muscle biopsy, revealed necrotizing myopathy. He improved after receiving prednisone and methotrexate. His symptoms and biochemical abnormalities returned four months later, when he improved again after three pulses of IV cyclophosphamide/steroids. He deteriorated again a month later.
The take-home message was to re-biopsy steroid-resistant inflammatory myositis.
The treating physicians thought this might be a case of another rare condition called Haycocknema perplexum, said Emma Mitchell, MBBS. But a crucial difference, she said, was that the patient took five months to deteriorate. Haycocknema perplexum patients deteriorate much quicker.
Another presentation involved a case from Shaare Zedek Medical Center in Jerusalem, where Familial Mediterranean Fever (FMF) did not respond to colchicine.
The case involved a 14-year-old male of mixed Sephardic-Ashkenazi Jewish ancestry. His symptoms included: recurrent abdominal pain and vomiting; absence of fever, rashes, and chest pain; episodes every one to two weeks lasting for one to three days that were precipitated by exercise, stress, and infections.
He had been on colchicine for two years. His father had been diagnosed with FMF, and a genetic analysis of the patient at age 11 revealed heterozygote E148Q substitution. Further pertinent patient history revealed episodes starting in early infancy of yellow/green vomit.
The patient underwent an upper gastrointestinal series, which revealed ligament of Treitz malposition with corkscrew appearance of the duodenum. This was consistent malrotation. A Ladd procedure confirmed the diagnosis, which resolved the episodes, led to rapid growth catch-up, and helped with perfect school attendance.
One lesson learned from the case, said Merav Heshin-Bekenstein, MD, is that “multiple other disease processes may closely resemble abdominal attacks of FMF.”
She said physicians also learned that in atypical cases with potential red flags, a thorough patient history must take place to attain an accurate diagnosis.
In her presentation, Florentina Berianu, MD, of the Mayo Clinic in Jacksonville, Fla., talked about a case involving a 56-year-old well-nourished Caucasian female without any significant past medical history who was admitted with fatigue, shortness of breath, and acute GI bleeding with bright red blood per rectum (BRBPR) for one week. She denied alcohol intake and was not taking any medications.
The patient initially received two units of packed red blood cells but continued to have BRBPR and required three additional units of packed red blood cells. Coagulation studies and platelet counts were within normal limits, but she developed a petechial rash in the hospital. In continuing the clinical course, a hematologic evaluation was negative.
Doctors started the patient on prednisone, but after two days the cutaneous petechial lesions worsened, and she continued to have GI bleeding. The autoimmune work up returned negative, and pathology results found non-inflammatory purpura.
“Further questioning revealed that she had been eating only boiled and pureed food for years without any fresh fruits or vegetables due to a subjective throat irritation from these foods,” Dr. Berianu said.
Based on that information, it was found that her ascorbic acid serum level was significantly low. The ultimate diagnosis was scurvy, she said.
Deepa Gali, MD, from the Division of Rheumatology & Ophthalmology at Wayne State University/Henry Ford Hospital in Detroit, presented a case involving a 53-year-old white female with a history of ankylosing spondylitis and tobacco abuse.
She presented with nausea, abdominal cramps, lymphadenopathy for two weeks, a fever of up to 103 degrees for three days, and sudden onset of painless vision loss in the right eye with photosensitivity and conjunctival injection on the day of admission.
Doctors eventually altered the initial diagnosis to ocular bartonellosis (cat-scratch neuroretinitis) once they discovered the patient had been exposed to a feral kitten.
One of the teaching points, Dr. Gali said, was that “patients with autoimmune disease frequently develop conditions that may be unrelated to the underlying disease.”