Hyperferritinemia Cataract Syndrome synonyms

Hyperferritinemia Cataract Syndrome is a rare genetic disorder that is characterized by the presence of high levels of ferritin in the blood and the development of cataracts in the eyes. This condition is also known by several other names, including:

• Ferritin Cataract Syndrome: This name highlights the two main features of the disorder, namely the elevated ferritin levels and the occurrence of cataracts.


• Hereditary Hyperferritinemia Cataract Syndrome: This term emphasizes the hereditary nature of the condition, indicating that it is passed down through generations within families.


• HHCS: This acronym stands for Hereditary Hyperferritinemia Cataract Syndrome, which is commonly used in medical literature and discussions.


• Hyperferritinemia with Cataract: This name succinctly describes the two primary manifestations of the syndrome.


• Ferroportin Disease: This term refers to the underlying genetic mutation that causes the syndrome, which affects the function of a protein called ferroportin.

Individuals with Hyperferritinemia Cataract Syndrome typically experience abnormally high levels of ferritin, a protein that stores iron in the body. This can lead to iron overload in various organs and tissues, including the lens of the eye, resulting in the formation of cataracts. Cataracts cause clouding of the lens, leading to blurred vision and, if left untreated, can eventually cause vision loss.

It is important to note that Hyperferritinemia Cataract Syndrome is a genetic disorder, meaning it is caused by mutations in specific genes. The most common genetic mutation associated with this syndrome is a change in the iron-regulatory hormone gene, which disrupts the normal regulation of ferritin levels in the body.

Diagnosis of Hyperferritinemia Cataract Syndrome involves a combination of clinical evaluation, genetic testing, and assessment of ferritin levels in the blood. Treatment options for this condition are limited, and management primarily focuses on addressing the symptoms and complications associated with iron overload and cataracts.

In conclusion, Hyperferritinemia Cataract Syndrome, also known as Ferritin Cataract Syndrome or HHCS, is a rare genetic disorder characterized by elevated ferritin levels and the development of cataracts. It is important for individuals with this condition to receive appropriate medical care and support to manage the associated symptoms and complications.