Liver diseases or conditions can occur due to a variety of factors like infections, immune system disorders, cancers and tumors, inherited conditions, alcohol abuse, drug overdoses, obesity and non-alcoholic fatty liver disease (NAFLD). Liver problems can be inherited or genetic. Inherited liver diseases refer to a group of metabolic and genetic defects that specifically cause early chronic liver involvement. In most cases, inherited disorders occur due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. If left untreated, the condition can cause severe damage to the liver and complications like – acute liver failure and cirrhosis (a buildup of scars in the liver). Physicians who treat patients need to correctly diagnose the symptoms, causes and understand the various types of genetic liver disorders. To code the diagnosis and treatment modalities correctly, they can rely on reputable medical billing and coding companies.
Here discussed are the top four inherited liver disorders and their related ICD-10 codes –
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Hemochromatosis – A common genetic disorder, hemochromatosis occurs when too much iron builds up in the body. In this condition, the body absorbs too much iron and it finds no way to get rid of the excess iron, thus leading to an excessive concentration of iron in the blood. The extra iron builds up in different parts of the body or organs, mainly in the liver. It is estimated that about 9 percent (about 1 in 10) of men with inherited hemochromatosis will develop severe liver disease. In most cases, people with hemochromatosis do not experience any noticeable symptoms.
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However, when symptoms occur they vary from one person to another. Common symptoms include -low energy, joint pain, fatigue, abdominal pain and a low sex drive. Diagnosis of this condition begins with a detailed physical examination. Several tests like blood tests, liver biopsy (removing a sample of liver tissue for testing), MRI (to measure the degree of iron overload in your liver) and DNA test (testing for HFE gene) may be performed to confirm the diagnosis of this condition. Treatment for this condition is phlebotomy – which involves safely and effectively removing blood from the body (phlebotomy) on a regular basis. ICD-10 diagnosis codes include –
- E83.1 Disorders of iron metabolism
- E83.10 Disorder of iron metabolism, unspecified
- E83.11 Hemochromatosis
- E83.110 Hereditary hemochromatosis
- E83.111 Hereditary hemochromatosis, due to repeated red blood cell transfusions
- E83.118 Other hemochromatosis
- E83.119 Other hemochromatosis, unspecified
- E83.19 Other disorders of iron metabolism
Hyperoxaluria – The condition occurs when there is too much oxalate in the urine. Oxalate is a natural chemical in the human body. In addition, it is also found in certain types of food. If left untreated, excess amount of oxalate in the body can result in serious health problems like kidney damage or loss of kidney functioning. An excess amount of oxalate can combine with calcium in the urine and cause kidney stones and crystals to form. Hyperoxaluria can be – primary or secondary. Regarded as a genetic (inherited) disorder of the liver, primary hyperoxaluria occurs when the liver does not produce enough enzymes to prevent the overproduction of oxalate or the enzymes do not work properly. Secondary hyperoxaluria, on the other hand, occurs when excess oxalate is absorbed into the gastrointestinal (GI) tract and then excreted in the urine. Symptoms associated with the condition can develop any time from infancy to later adulthood (over 70 years of age). Kidney stones are the common initial symptom associated with the condition. Other related symptoms include – pain in the lower back or side of the body, nausea and/or vomiting blood in the urine, frequent need to urinate, fever or chills, urine that smells bad or looks cloudy and pain when urinating. Diagnosis of the condition begins with a physical exam and other additional tests like – urine test, blood test, kidney stone analysis, kidney X-ray, ultrasound and computerized tomography (CT) scan. Treatment modalities depend on the type, symptoms and severity of hyperoxaluria. Treatment options aim to reduce the amount of calcium oxalate crystal formation in the kidneys. Common treatment options include – medications (like – Vitamin B-6, thiazide diuretics), high fluid intake and incorporating changes in the diet (restricting foods high in oxalates, limiting salt, and decreasing animal protein and sugar (high fructose corn syrup). Incorporating key dietary changes may help reduce the levels of oxalate in the urine. Related ICD-10 codes include –
- E72.53 Primary hyperoxaluria
- R82.992 Hyperoxaluria
Wilson’s disease – Wilson’s disease is a rare, inherited disorder that causes copper to accumulate in the body, mainly in the liver. Also known as hepatolenticular degeneration and progressive lenticular degeneration, the condition can cause copper poisoning not only in the liver, but also in the brain and other vital organs. Generally, in a healthy body, the liver filters out excess copper and releases it through urine. However, with Wilson’s disease, the liver cannot remove the extra copper properly. The signs and symptoms associated with the condition vary widely, depending on which specific organ gets affected. The common signs and symptoms of Wilson’s disease that affects the liver include – weakness, weight loss, loss of appetite, nausea and vomiting, jaundice, or yellowing of the skin, edema (swelling of legs and abdomen and pain or bloating in the abdomen). As the symptoms of Wilson’s disease are similar to other health issues (like heavy metal poisoning, hepatitis C, and cerebral palsy), diagnosing this condition is quite difficult. Physician specialists may diagnose the condition by performing a detailed physical examination, blood tests and other imaging tests like magnetic resonance imaging (MRI) and computerized tomography (CT) scans to determine how advanced the condition is. In some cases, physicians may recommend a liver biopsy to look for signs of damage and high levels of copper. Early diagnosis is important for stopping the progression of Wilson’s disease. Delaying or not receiving treatment can cause permanent liver failure or other life-threatening conditions. ICD-code for Wilson’s disease-
- E83.01 Wilson’s disease
Alpha-1 Antitrypsin Deficiency – Alpha1-antitrypsin deficiency (AATD, AAT deficiency) is an inherited condition that increases the risk of liver disease. A protein made by the liver, Alpha1-antitrypsin’s function is to protect the lungs. Alpha-1 antitrypsin protein normally travels from the liver through the blood to protect the lungs and other organs. However, if the proteins are not in the right shape or amount, they can get stuck in the liver. This can in turn lead to cirrhosis, severe liver damage and scarring, and even liver cancer. The condition can affect both children and adults. A child born with alpha-1 may have liver symptoms like – poor growth, diarrhea and itching in the first weeks of life. Symptoms may also appear when a child is older and these include – poor appetite, fatigue, jaundice, vomiting and swelling or pain in the abdomen. Alpha-1 is inherited if both the parents carry a faulty gene and pass on to the patient. If the gene is passed to a patient from only one parent, they will not get the disease, but they will be a carrier and can pass the gene to their children. There is no specific cure for alpha-1. However, practicing healthy lifestyle habits like – avoiding alcohol and tobacco smoke, undergoing regular checkups and tests (as recommended by the physician), getting vaccinated against hepatitis A and B (which cause liver damage) and following a healthy diet and reducing weight can minimize complications. Related ICD-10 code –
- E88.01 Alpha-1-antitrypsin deficiency
Incorporating healthy lifestyle habits like avoiding alcohol, quitting smoking, and eating a healthy diet can help reduce the symptoms of livers disorders and prevent complications from becoming severe. With correct and timely treatment, these inherited liver disorders are usually not fatal. Therefore, it is very important for people to stay healthy to reduce the possible complications associated with the condition.
Medical billing and coding for inherited liver disorders can be challenging. Physicians can consider hiring medical coding services as this would ensure accurate reporting of diagnostic details and help avoid delayed or denied claims.
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This post was last modified on November 21, 2024 10:40 am