autosomal recessive inherited pseudoxanthoma elasticum

Autosomal recessive inherited pseudoxanthoma elasticum is a multisystem condition that primarily affects the skin, eyes, and cardiovascular system. It is caused by pathogenic variants in the ABCC6 gene, which impair the function of a protein involved in tissue mineralization. The condition is uncommon, affecting approximately 1 to 9 per 100,000 people, and it typically presents during adulthood although ocular and cutaneous changes may be detected earlier. Overall, the presentation and progression of the condition vary among affected individuals.

Individuals with autosomal recessive inherited pseudoxanthoma elasticum often exhibit characteristic ocular changes, with retinal peau d'orange being universally observed and angioid streaks frequently noted. Many affected individuals also develop yellow papules, visual impairment, and choroidal neovascularization, while less commonly, they experience cutis laxa, gastrointestinal hemorrhage, and cardiovascular features such as reduced pulse or hypertension. Because this condition affects multiple systems, its symptoms may evolve over time and not every individual will experience all features, with severity and specific clinical manifestations varying considerably.

This condition is caused by pathogenic variants in the ABCC6 gene. The ABCC6 gene encodes a protein that is thought to regulate tissue mineralization, and disruptions in its function lead to the abnormal calcification observed in affected tissues. Autosomal recessive inheritance means that an individual must inherit two altered copies of the gene, one from each parent, to manifest the condition. Families with a history of the condition may benefit from genetic counseling to understand recurrence risks and explore testing options.

Currently, management focuses on supportive care and symptom management for autosomal recessive inherited pseudoxanthoma elasticum. A multidisciplinary approach is recommended, with regular monitoring of ocular, cardiovascular, and dermatologic health being an essential part of long-term care. Although no FDA-approved or foundational treatments are currently available, individuals may benefit from regular surveillance and lifestyle modifications tailored to their symptoms. Genetic counseling is recommended to help patients and families understand the condition and explore appropriate management options.

The long-term outlook for individuals with autosomal recessive inherited pseudoxanthoma elasticum is variable, with the clinical course differing widely between patients. While some may experience a gradual progression of symptoms affecting the eyes, skin, and cardiovascular system, others may have a more stable course with effective management of complications. Outcomes described in medical literature continue to evolve as standards of care improve, and with current supportive measures, many individuals are able to maintain a good quality of life. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for further guidance on management and family planning.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.