In a study published in BMC Pediatrics, researchers have found atypical hemolytic uremic syndrome (aHUS) and autoimmune thyroid disease may not only be a relatively common pair of rare diseases to present together, but that they may trigger the development of each other.
At the Shengjing Hospital of China Medical University, scientists investigated a 12-year-old girl who was admitted to the ICU with symptoms including vomiting, nose bleeds, tiredness, and blood in her urine, she went through a host of tests. In this first round of diagnosis, they found evidence of hyperthyroidism. Those symptoms alongside evidence of high levels of a specific protein that target thyroid cells indicated she was a bearer of autoimmune thyroid disease, AITD.
Autoimmune Thyroid Disease (AITD)
Autoimmune thyroid disease is a umbrella term for a set of rare diseases caused when a person’s immune system attacks itself and the thyroid. The thyroid is important for its role with hormones, which it secretes to keep the metabolism functioning. The disease can cause patients to develop an overactive or underactive thyroid. While there are a variety of subtypes, symptoms of hyperthyroidism include irritability, sweating, shaking, fast heart rate, difficulty sleeping, thinking of hair, and more. Symptoms of hypothyroidism include tiredness, weight gain, dry skin, sensitivity to the cold, and more.
After the girl began taking a treatment to treat AITD, clinical exams noted an acute kidney injury. This made doctors suspect she could have aHUS. After ruling out similar diagnosis, she began treatment with therapeutic plasma exchange (TPE) which targets a protein that causes aHUS. They also switched her medication to treat AITD because it potentially triggered her other disorder.
Atypical Hemolytic Uremic Syndrome (aHUS)
Atypical hemolytic uremic syndrome is an ultra rare disease that causes blood clots in the kidneys. The disorder is known for causing hemolytic anemia causing paleness, jaundice, fatigue, shortness of breath, and a high heart rate. It also causes thrombocytopenia and kidney failure. These symptoms can be life threatening if the kidney cannot properly flush out toxins from the patients system.
Her Double Diagnosis
After being readmitted to the hospital months later for other symptoms that suggested aHUS, she began to get frequent treatment to help stabilize her thyroid levels and maintain healthy kidney functioning. It worked- she responded to the treatment and maintained lowered thyroid levels.
The doctors suspected aHUS based on her positive results, writing in their report:
“we favored that she might have aHUS caused by autoantibodies against the complement system, leading to excessive activation of the complement pathway and microangiopathic hemolytic anemia.However, more evidence is needed to exclude the possibility that she had other genetic causes of HUS or HUS caused by activated complements.”
Interestingly, they suspect the diseases to be linked to each other, writing in the journal, “The coexistence of aHUS and AITD in this case is likely more than coincidence, because both are autoimmune in origin.”
