ICD10 code of HFE hereditary haemochromatosis and ICD9 code

The primary ICD-10 code for HFE hereditary haemochromatosis is E83.11, while the historical ICD-9 code is 275.01. These classification codes are essential for clinicians to document the iron overload associated with HFE hereditary haemochromatosis in medical records and billing systems.

What is the clinical significance of HFE hereditary haemochromatosis?

HFE hereditary haemochromatosis is a genetic disorder characterized by excessive intestinal iron absorption, leading to iron accumulation in organs such as the liver, heart, and pancreas. With 828 community members at DiseaseMaps.org sharing their experiences, we recognize that early diagnosis is critical to preventing irreversible organ damage. When HFE hereditary haemochromatosis is left untreated, it can lead to cirrhosis, cardiomyopathy, and diabetes.

How is HFE hereditary haemochromatosis diagnosed?

Diagnosis of HFE hereditary haemochromatosis typically involves a combination of biochemical testing and genetic analysis. Physicians often look for the following markers and criteria:

• Serum Ferritin: Elevated levels often indicate significant iron stores.


• Transferrin Saturation (TSAT): A fasting TSAT greater than 45% is a common screening threshold.


• Genetic Testing: Identification of the C282Y/C282Y genotype is the gold standard for confirming HFE hereditary haemochromatosis.


• Liver Imaging or Biopsy: Used in advanced cases to assess the degree of fibrosis or iron deposition.

Is HFE hereditary haemochromatosis hereditary?

Yes, HFE hereditary haemochromatosis is inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the mutated HFE gene—one from each parent—to typically manifest the clinical symptoms of HFE hereditary haemochromatosis. Genetic counseling is highly recommended for families to understand their risk profiles and the implications of being a carrier.

How does the community support those with HFE hereditary haemochromatosis?

Living with HFE hereditary haemochromatosis requires ongoing management, often involving therapeutic phlebotomy. Connecting with the 828 members of the DiseaseMaps.org community provides invaluable peer support for navigating the dietary adjustments and treatment schedules required to manage HFE hereditary haemochromatosis effectively.

Next steps

• Consult a hematologist or gastroenterologist to establish a long-term iron-management plan.


• Schedule genetic testing if you have a first-degree relative diagnosed with HFE hereditary haemochromatosis.


• Join the DiseaseMaps.org community to share experiences with others living with this condition.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): HFE-associated hereditary hemochromatosis.


• Orphanet: HFE-related hereditary hemochromatosis (ORPHA:398).


• OMIM (Online Mendelian Inheritance in Man): Hemochromatosis; HFE (#235200).


• The Iron Disorders Institute: Clinical guidelines for HFE hereditary haemochromatosis.