As the summer heat rolls on, we continue our look at the FY 2027 Inpatient Prospective Payment (IPPS) proposed rule. Continuing with Part 2 of our proposed rule preview looking at new code additions for syndromes, we first will look at Li Fraumeni syndrome with proposed new code QA1.792.
Li Fraumeni syndrome is a rare genetic condition. Like Lynch syndrome previously discussed, patients with Li Fraumeni syndrome have an increased cancer risk.
According to Cleveland Clinic, people with Li-Fraumeni syndrome have a 90 percent chance of developing at least one type of cancer by age 60, and about half develop cancer before turning 40. Cleveland Clinic also notes that female patients are highly likely to develop breast cancer.
Li Fraumeni syndrome is due to a mutation in the TP53 gene which makes a tumor suppressing protein. When the mutation occurs, the protein isn’t made allowing cells to become cancerous.
Li Fraumeni is diagnosed through genetic testing with patients requiring an ongoing schedule of cancer screening throughout their life. Patients diagnosed as children will have a different screening schedule as they reach adulthood. Research has shown these screenings do improve survival rates.
The symptoms are related to the type of cancer that develops. Li Fraumeni syndrome is linked to many different types of cancer, but there are five that are commonly seen. These five core cancers are sarcomas, breast cancer, brain cancer, adrenocortical carcinoma and leukemia. An interesting note by the Cleveland Clinic is that patients with Li Fraumeni syndrome are more likely to develop cancers caused by radiation exposure. Since these patients may develop other cancers, it is important their providers know their diagnosis when developing their treatment plans.
This will be a new Alphabetic Index entry add for Li Fraumeni syndrome, with the proposed new code QA1.792. Tabular List will add QA1.7, Inherited neoplasm predisposition syndromes involving multiple systems, not elsewhere classified, as noted last week with Lynch syndrome. We will watch to see if this is finalized in the final rule.
Next, we will look at Loeys-Dietz syndrome with a proposed new code of Q87.A. This is also proposed to be a CC condition. Cleveland Clinic notes this is a genetic condition that affects the patient’s connective tissue, mainly the heart and blood vessels, bones and joints, the eyes and the skin. Loeys-Dietz is recent, being identified in 2005 by two physicians for whom the syndrome is named. Prior to this, this syndrome may have been diagnosed as Marfan syndrome because it also affects the connective tissue.
Cleveland Clinic also identifies four main features of Loeys-Dietz syndrome. The first is aneurysms which can occur in the aorta or other arteries. Second is arterial tortuosity, most often occurring in neck arteries. Third is ocular hypertelorism which is a distinctive feature of Loeys-Dietz. The patient’s eyes are spaced wider than in normal presentation. Fourth and final is a bifid or broad uvula, where the uvula is noted to be larger than normal or split. Cleft lip and palate, clubfoot and pectus excavatum or pectus carinatum are among the other physical findings that may also be noted.
There are five different types of Loeys-Dietz based on the gene change that is present. LDS-I mainly involves craniofacial while LDS-2 mainly involves skin. These are the two most common types. LDS-III mainly involves aneurysms and osteoarthritis. LDS-IV mainly involves Marfan syndrome-like features and aortic aneurysm issues. LDS-V mainly
involves thoracic and/or abdominal aorta aneurysms. LDS is diagnosed through genetic testing with treatment being related to disease involvement.
Q87.A will be an add to Q87, Other specified congenital malformation syndromes affecting multiple systems and will be a specific Alphabetic Index entry.
Resources
Li-Fraumeni Syndrome: Symptoms, Causes & Outlook
Loeys-Dietz Syndrome (LDS): Symptoms & Prognosis
FY 2027 IPPS Proposed Rule Home Page | CMS
