In simple words: This is an inherited condition where abnormal proteins build up in your kidneys. It's caused by a faulty gene and can cause problems with how your kidneys work. You might have protein in your urine, swelling, and need to pee a lot. It can eventually lead to kidney failure.

Non-neuropathic heredofamilial amyloidosis is a genetic disorder characterized by the accumulation of amyloid proteins, primarily in the kidneys.It is caused by mutations in the transthyretin (TTR) gene. This leads to the production and deposition of amyloid fibrils, disrupting normal organ function, especially kidney function.Symptoms may include protein in the urine (proteinuria), swelling (edema), frequent urination, and shortness of breath. As the disease progresses, it can lead to kidney failure. The "non-neuropathic" designation distinguishes it from forms of familial amyloidosis that affect the nervous system.

Example 1: A 45-year-old patient presents with persistent swelling in the legs and face, increased urination, and shortness of breath.Family history reveals similar symptoms in their parent.Urinalysis shows high protein levels. Further testing confirms a diagnosis of E85.0., A 30-year-old patient with a known family history of hereditary amyloidosis undergoes genetic testing, which reveals a mutation in the TTR gene, confirming a diagnosis of E85.0, despite being currently asymptomatic. Regular monitoring of kidney function is initiated., A patient with long-standing E85.0 develops end-stage renal disease requiring dialysis and is placed on the transplant list.

Documentation should include evidence of proteinuria, edema, relevant family history, biopsy results showing amyloid deposits, genetic testing results (TTR gene mutation), and imaging studies (CT/MRI) of the kidneys. Progression of the disease and any related complications should also be documented.

** The term "hereditary amyloid nephropathy" is often used synonymously with E85.0.