In girl, secondary cold agglutinin disease seen to mimic vasculitis
Case report describes symptoms suggestive of blood vessel condition in youth
In a young girl in India, cold agglutinin disease (CAD) secondary to a respiratory infection resulted in symptoms suggestive of vasculitis, a group of conditions marked by blood vessel inflammation, a study reported.
The symptoms mimicking vasculitis included blueish-blackish discoloration of the nose’s tip that indicated tissue cell death due to lack of blood supply. Further evaluation discarded vasculitis as the cause and confirmed a diagnosis of secondary CAD.
Treatment of the underlying infection effectively resolved the girl’s CAD symptoms, according to the researchers.
“Short history, temporality with cold exposure and supportive investigations are pivotal in ascertaining diagnosis and avoiding unnecessary immunosuppression,” the team wrote.
The case study, “Mycoplasma pneumoniae induced cold agglutinin syndrome: an unusual mimicker of childhood vasculitis,” was published in Archives of Disease in Childhood.
Secondary cold agglutinin disease symptoms linked to infection
CAD is a rare autoimmune disease that’s caused by self-reactive antibodies known as cold agglutinins. These cold agglutinins bind to red blood cells at cold temperatures, causing the cells to clump together (or agglutinate) and to be marked for destruction.
This red blood cell death, known as hemolysis, can lead to anemia — which can be defined by low counts of red blood cells or low levels of hemoglobin, the protein in these cells that helps transport oxygen throughout the body.
As a result of hemolysis, tissues often do not receive enough oxygen, and patients can develop symptoms such as fatigue, pain, and a bluish skin discoloration called acrocyanosis.
There are two types of cold agglutinin disease: primary CAD and secondary CAD. In primary CAD, the specific cause of the disease is unknown. However, in cases of secondary CAD, the disease develops due to another health condition, such as an infection, cancer, or another autoimmune disease.
Here, researchers in New Delhi described the case of a girl in her early childhood with secondary CAD whose symptoms first resembled certain forms of vasculitis.
The girl initially was treated after experiencing fever for 10 days, a rash on her trunk and legs, and a bluish discoloration of her toes. She also had a large bluish-blackish discoloration of the tip of her nose indicative of gangrene, or tissue death due to a lack of blood flow.
Her gangrenous nose tip suggested one of two forms of whole-body vasculitis: granulomatosis with polyangiitis (GPA) and polyarteritis nodosa. GPA mainly affects the nose, throat, lungs, and kidneys, while polyarteritis nodosa typically results in the death of medium blood vessels, which affects several organs and systems, including the skin.
Bloodwork revealed anemia with low hemoglobin levels, as well as high blood levels of lactate dehydrogenase, a marker of hemolysis, and of cold agglutinins. A blood smear, where a small amount of blood is smeared on a glass slide to then be examined under a microscope, showed clumps of red blood cells.
Further testing indicated the presence of an infection caused by Mycoplasma pneumoniae, a bacterium involved in respiratory infections.
Cold agglutinin disease presents during winters with skin lesions mimicking vasculitis, with M. pneumoniae being a known cause.
Given that the girl was negative for self-reactive antibodies linked to GPA and other forms of vasculitis, the researchers believed that all symptoms were due to CAD secondary to M. pneumoniae infection.
The girl was treated with the antibiotic doxycycline to address the underlying infection. Her fever was resolved and her skin changes improved. The girl was left, however, with a residual nose scar.
“Cold agglutinin disease presents during winters with skin lesions mimicking vasculitis, with M. pneumoniae being a known cause,” the researchers wrote.
