Psychosocial impact of an X-linked hereditary disease: a study of Alport syndrome patients and family members

A nationwide search for patients with Alport syndrome (AS), a hereditary ne phritis with sensorineural hearing loss and occasional ocular anomalies, wa s performed. As AS is usually transmitted in an X-linked fashion, its form is usually severe in male and mild in female patients. Semi-structured inte rviews were conducted with 24 patients with AS and their family members fro m 17 families and 11 pedigrees. The emphasis was on psychosocial stress exp erienced in everyday life, as well as the influence of AS on family relatio nships, especially mother-son relationships. Special attention was paid to children's reactions and feelings as well as the coping strategies of the f amily. Denial was the most common psychological defence found in our study. We fou nd several cases where AS had led to chronic mental suffering. One of the p atterns was a combination of maternal depression and an overprotective atti tude toward an AS-affected son. In other instances, depressive symptomatolo gy and anxiety were seen in connection with complications and an adverse ou tcome of the disease. Families with any AS manifestations should be encouraged to discuss openly the past histories of family members, their fears, feelings of guilt, hopes and expectations. The role and empathic attitude of the clinician is cruci al in this process. Mildly affected mothers who have sons with AS are espec ially in need of psychological support. Professional psychological help sho uld be made available but not given routinely.