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Let’s be honest: we need better mental health support for people with rare diseases and their families. 

Rare diseases come alongside a hefty financial burden, a lack of information and research, and a lot of questions about what the future might bring. For some people, their condition inhibits them from getting a job, spending time with friends, or doing other activities. This can be mentally and emotionally taxing. 

Marisa Wexler reports in aHUS News on a recent study evaluating the prevalence of mental health conditions in people living with atypical hemolytic uremic syndrome (aHUS). 

What is Atypical Hemolytic Uremic Syndrome (aHUS)?

Atypical hemolytic uremic syndrome (aHUS) is an extremely rare form of thrombotic microangiopathy. It is characterized by hemolytic anemia (red blood cell destruction that leads to low levels of red blood cells), thrombocytopenia (low platelet count), and acute kidney failure. At least six genes have been associated with aHUS. In conjunction with the mutation, an environmental trigger (such as the flu) prompts the condition to develop. aHUS may cause multiple episodes and become chronic. It is more common in females than males, especially around pregnancy. Symptoms, outside of those listed above, can include:

• Small blood clots (microthrombi) 
• Fatigue and lethargy
• High blood pressure
• Hematuria (bloody urine) 
• Proteinuria (protein in the urine) 
• Headaches
• Cardiomyopathy
• Double vision
• Pulmonary edema
• Coma
• Stroke

Study Findings

In this study, the results of which were published in the Journal of Critical Care, researchers interviewed 103 people: 50.5% of whom had aHUS, and 50.5% of whom had immune-mediated thrombotic thrombocytopenic purpura. A majority of interviewees were female and all interviewees had previously been hospitalized in intensive care. Additionally, around 50% of interviewees had treated their aHUS with Soliris. 

A significant amount of interviewees reported experiencing depression (14%), post-traumatic stress disorder (27%), and anxiety (50%). Assessments performed by researchers confirmed this, although the researchers do note that these are based on clinically relevant criteria; unless stated by a mental health professional, these assessments were not diagnostic. Additional findings showed that:

• Thrombocytopenia upon hospitalization, or current treatment, both heightened the risk of PTSD.
• Men were less likely to develop PTSD than women. Learn more about PTSD. 
• People taking Soliris were more likely to report better quality-of-life (QOL). 
• PTSD was positively correlated with anxiety, depression, weight gain, self-confidence issues, body dysmorphia or disconnection, and worse QOL.

Based on these findings, the research team recommends that people being treated for aHUS should also be evaluated for anxiety, depression, and PTSD. Further, they note, improving mental health resources would be highly beneficial.