E85.2 Heredofamilial amyloidosis, unspecified

ICD10CM code

#### Name of the Condition
- Heredofamilial Amyloidosis, Unspecified
- Also referred to as Familial Amyloid Polyneuropathy (FAP) or Inherited Amyloidosis.

#### Summary
Heredofamilial amyloidosis is a rare genetic disorder characterized by the accumulation of amyloid proteins in various tissues and organs. This process disrupts normal function, leading to a variety of health issues that can impact the heart, kidneys, liver, and nervous systems.

#### Causes
The condition is primarily caused by mutations in genes responsible for the production of certain amyloidogenic proteins, such as transthyretin. These mutations lead to the misfolding and deposition of amyloid fibers.

#### Risk Factors
- Family history of amyloidosis or similar genetic conditions.
- Certain ethnic groups, like Portuguese, Swedish, and Japanese, have a higher prevalence.
- Age (symptoms typically develop in adulthood).

#### Symptoms
- Nerve pain and numbness (especially in hands and feet).
- Symptoms of heart failure or arrhythmias.
- Kidney dysfunction or proteinuria.
- Gastrointestinal issues such as diarrhea or constipation.

#### Diagnosis
- Genetic testing to identify amyloidogenic mutations.
- Tissue biopsy and Congo red staining for amyloid deposits.
- Imaging studies (e.g., echocardiogram) to assess organ involvement.
- Blood tests to evaluate liver and kidney function.

#### Treatment Options
- Medications include TTR stabilizers like tafamidis to prevent amyloid deposition.
- Liver transplantation can reduce the source of amyloidogenic proteins.
- In some cases, symptomatic treatments for heart failure or neuropathy are needed.

#### Prognosis and Follow-Up
- Prognosis varies depending on organ involvement and response to treatment.
- Regular follow-ups are crucial to monitor disease progression and manage complications.

#### Complications
- Heart failure or arrhythmias.
- Progressive neuropathy.
- Renal failure.
- Liver dysfunction.

#### Lifestyle & Prevention
- While genetic factors can't be prevented, maintaining a healthy lifestyle can support overall well-being.
- Regular exercise and a balanced diet may help manage symptoms and improve quality of life.

#### When to Seek Professional Help
- New or worsening symptoms such as significant weight loss, neuropathic pain, or cardiac symptoms should prompt immediate consultation with a healthcare provider.

#### Additional Resources
- Amyloidosis Foundation ([www.amyloidosis.org](https://www.amyloidosis.org))
- Genetic and Rare Diseases Information Center ([rarediseases.info.nih.gov](https://rarediseases.info.nih.gov))

#### Tips for Medical Coders
- Ensure accuracy by confirming the hereditary nature of the condition when coding.
- Avoid confusion with non-hereditary forms of amyloidosis by thorough verification.
- Use ICD code E85.2 specifically for unspecified heredofamilial amyloidosis.

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