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

Abstract

A nationwide search for patients with Alport syndrome (AS), a hereditary nephritis with sensorineural hearing loss and occasional ocular anomalies, was 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 interviews were conducted with 24 patients with AS and their family members from 17 families and 11 pedigrees. The emphasis was on psychosocial stress experienced in everyday life, as well as the influence of AS on family relationships, especially mother-son relationships. Special attention was paid to children's reactions and feelings as well as the coping strategies of the family. Denial was the most common psychological defence found in our study. We found several cases where AS had led to chronic mental suffering. One of the patterns was a combination of maternal depression and an overprotective attitude toward an AS-affected son. In other instances, depressive symptomatology and anxiety were seen in connection with complications and an adverse outcome 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 crucial in this process. Mildly affected mothers who have sons with AS are especially in need of psychological support. Professional psychological help should be made available but not given routinely.