Coexistence of Cryoglobulinemic Vasculitis and CAD Described for 1st Time in Case Report

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by Alice Melao |

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A case of simultaneous cryoglobulinemic vasculitis and cold agglutinin disease (CAD) was reported for the first time in a patient, according to Chinese researchers.

The rare occurrence was described in the study, “Concomitant cryoglobulinemic vasculitis and cold agglutinin disease successfully treated with bortezomib: A case report,” published in the journal Medicine.

Cryoglobulinemic vasculitis is a rare disease characterized by the deposition of abnormal antibodies, called cryoglobulins, due to low body temperatures and consequent damage to blood vessels. This condition is often related to other illnesses such as infections, autoimmune disorders, and malignancies. Treating the underlying disease is usually sufficient to resolve cryoglobulinemic vasculitis symptoms.

Cold agglutinin disease (CAD) is caused by the production of antibodies that under low temperatures target the body’s own red blood cells, making them form clumps and ultimately promoting their destruction.

Researchers in China are now reporting on the case of a 72-year-old woman who had a 25-year history of bluish discoloration of her hands after cold exposure accompanied by purpuric skin lesions. In more recent years, the discoloration of her extremities had worsened, and she also had started to have increased levels of proteins in the urine.

She was first evaluated two years after symptom onset. At that time, lab analysis showed she had reduced levels of hemoglobin and high levels of immature red blood cells. She was found to be positive for cold agglutinin autoantibodies as well as for cryoglobulins.

A chest X-ray revealed some signs of possible inflammation in the right lung. Analysis of a bone marrow biopsy showed that her red blood cells assembled and piled up.

Based on her symptoms and clinical results, she was diagnosed with cold agglutinin syndrome, possibly triggered by a respiratory infection. She also had asymptomatic cryoglobulinemia.

She was treated with prednisone to reduce the production of antibodies and with the antibacterial agent roxithromycin.

Over the next 18 years, the disease remained in remission, with hemoglobin levels within normal range. However, in 2014, she relapsed with more frequent and severe symptoms and with new purpuric skin lesions mainly affecting her lower limbs.

Four years later, she was admitted again to the hospital, and her clinical status was very similar to the first evaluation, with reduced hemoglobin and increased protein in the urine.

Additional tests were performed this time to rule out autoimmune diseases and infections. She had higher amounts of cold agglutinin in the blood than before, and very high levels of cryoglobulins.

She was found to have mild impairment of the heart pumping function and mild pulmonary hypertension.

A kidney tissue sample revealed some alterations that were consistent with cryoglobulinemic vasculitis. In addition, a skin biopsy of the purpuric lesions showed clumps inside the blood vessels.

With these new results, she was diagnosed with concomitant cryoglobulinemic vasculitis and CAD.

She started treatment with Velcade (bortezomib, marketed by Takeda) to promote protein breakdown as well as with cyclophosphamide and dexamethasone to inhibit the immune system.

After just two cycles of treatment, her blood levels returned to normal ranges, and she was negative for cryoglobulins.

“The coexistence of cryoglobulinemic vasculitis and CAD is an extremely uncommon scenario,” the researchers wrote. “To the best of our knowledge, this was the 1st case with concomitant cryoglobulinemic vasculitis and CAD.”

“Successful treatment was done with [Velcade]-based regimen, … although no underlying disease was diagnosed,” they said.

Further studies in larger groups of patients are still needed to establish improved treatment strategies. However, according to the research team, this may be a challenge due to the low incidence of these rare diseases, particularly in coexistence with each other.