What is Hyperferritinemia-Cataract Syndrome?

A Guide to Managing Hyperferritinemia-Cataract Syndrome

Hyperferritinemia-cataract syndrome, also known as Hereditary hyperferritinemia cataract syndrome (HHCS), is a rare congenital disorder. It is characterized by an elevated serum ferritin level (an iron storage protein) in the blood, leading to the early development of bilateral cataracts.

Though the disease is unlikely to cause complications in iron metabolism, the early cataract is most likely to cause visual impairments and requires timely medical intervention. Although elevated ferritin is most commonly associated with iron overload disorders such as hemochromatosis, HHCS is an unusual presentation of elevated ferritin without iron accumulation.

Keep reading for detailed insight into the causes, symptoms, diagnosis, and other crucial aspects of Hyperferritinemia-Cataract Syndrome.

What Causes Hyperferritinemia-Cataract Syndrome?

HHCS is caused by mutations in the ferritin light chain (FTL) gene that result in increased and uncontrolled production of ferritin without a rise in iron content. It is an autosomal dominant hereditary disorder, and a child is at 50% risk of developing it if one of the parents carries the gene.

The excess ferritin accumulates in the lens of the eyes, becoming crystalline deposits over time, resulting in cataracts, usually by early adolescence or adulthood.

What are the Symptoms of Hyperferritinemia-Cataract Syndrome?

The most notable symptoms of HHCS include:

• Serum ferritin elevation (in the absence of iron overload)
• Bilateral cataracts usually develop in childhood or early adulthood
• Visual disturbances, including blurred or cloudy vision
• Family history of early-onset cataracts or unexpected high ferritin levels
   

In some cases, individuals may also experience difficulty with night vision or increased sensitivity to light. Notably, people with iron overload disorders do not usually exhibit tiredness, organ damage, or skin color changes, thus making HHCS distinct from other iron-related conditions.

How is Hyperferritinemia-Cataract Syndrome Diagnosed?

Diagnosis typically involves the following steps:

● Blood Tests

Elevated serum ferritin levels are detected, but iron levels, transferrin saturation, and liver iron concentrations remain normal. These results are utilized to exclude conditions such as hemochromatosis, in which iron overload is usually exhibited.

● Eye Test

Slit-lamp examination may identify the existence of lens opacities common in HHCS. Opacities occur in a characteristic "breadcrumb-like" or star-shaped pattern, facilitating clinical identification.

● Genetic Testing

Establishes the existence of mutations in the FTL gene, facilitating the distinction of HHCS from other iron disorders. It is particularly essential for families with a history of prior unexplained cataracts or chronically elevated ferritin levels.

Early diagnosis helps to avoid unnecessary treatment, allows cataracts to be treated promptly, protects vision, and prevents complications.

Can Hyperferritinemia-Cataract Syndrome Be Treated?

As of now, there is no cure for the genetic mutation causing HHCS. However, the disease can be managed through the following procedures:

• Cataract surgery remains the only effective treatment for vision impairment.
• Ferritin monitoring is needed to avoid misdiagnosis as hemochromatosis.
• Genetic counseling is advised for affected individuals and their families to understand inheritance risks.
   

Avoiding misdiagnosis is important, as unnecessary iron-depleting therapy may cause anemia and other complications.

How Rare is Hyperferritinemia-Cataract Syndrome?

HHCS is extremely rare, and few reported families have been described globally in medical literature. Misdiagnosis is prevalent, as HHCS would commonly produce an elevated ferritin level, more classically linked with an iron overload.

Raising awareness among healthcare professionals and patients is essential to avoiding incorrect treatment pathways and focusing on appropriate cataract management.

Is Hyperferritinemia-Cataract Syndrome Preventable?

Since HHCS is a genetic condition, it is not preventable. But early diagnosis based on familial history and active screening can minimize the complications to a great extent. Families with a history of early cataracts should consider:

• Genetic counseling before conception of a child
• Regular eye check-ups starting from adolescence
• Serial monitoring of serum ferritin without invasive treatment
   

The progress of HHCS is not affected by dietary changes or changes in lifestyle because HHCS does not have any relationship with iron consumption.

Does Health Insurance Cover Hyperferritinemia-Cataract Syndrome?

Coverage depends on the individual policy terms and insurer. The majority of health insurance providers will cover:

● Diagnostic Tests

Blood work and eye examinations.

● Cataract Operation

If medically warranted, cataract surgeries are typically encompassed under basic medical insurance coverage.

● Post-op Care

Including medication and follow-up visits.

However, genetic testing or counseling might not always be included, so reviewing your policy details or speaking to a representative is advisable. Star Health Insurance has a number of plans that cover surgical procedures and management of chronic disease, making it a reliable choice for individuals requiring cataract care.

Call us today for further details!