The Intractable Hepato-Biliary Diseases Study Group in Japan, Health Labor Science Research Grants from Research on Measures for Intractable Diseases


Designated Intractable Disease

Last Update: February 21, 2022

1. What is a designated intractable disease?
Since the Act on Medical Care for Patients with Intractable Diseases (i.e., the Intractable Diseases Act) went into effect on January 1, 2015, measures for dealing with intractable diseases became designated in law. Furthermore, financial support for medical expenses, known as "The Research Project for the Treatment of Special Chronic Diseases," was renewed. This law established the definition of "intractable diseases" as diseases whose "mechanism of onset is not known," that "have no established treatment," that are "rare diseases," and that "require long-term treatment." Diseases that, in addition to these four requirements, also meet the following two requirements are considered "designated intractable diseases": "the number of patients in Japan with the disease does not reach a certain number (approximately 0.1% of the population, which is slightly over 120,000 people)" and "no objective diagnostic criteria (or any criteria based on same) have been established." These "designated intractable diseases" are eligible for medical expense financial support. As of December 2016, 306 diseases were recognized as designated intractable diseases. Of the liver and bile duct diseases that our study group investigates, autoimmune hepatitis (AIH), primary biliary cholangitis (PBC; however, as of December 2016, the Ministry of Health, Labour and Welfare was using the former name "primary biliary cirrhosis"), primary sclerosing cholangitis (PSC), Budd-Chiari syndrome, and idiopathic portal hypertension (total of five diseases) are designated intractable diseases.

2. Who qualifies for financial support for their medical expenses?
However, patients suffering from the five designated intractable diseases mentioned above do not necessarily qualify for financial support for their medical expenses. Each disease has its own "level of severity" classification, and as a general rule, only the patients diagnosed with moderate to severe disease according to these categories are eligible to receive financial support (Table 1). Patients diagnosed with mild disease are, as a general rule, not eligible to receive financial support for their medical expenses. However, as will be discussed below, in cases where patients with mild disease incur high medical costs, they can be eligible for financial support.

3. "Clinical Survey Individual Sheet" and "Intractable Disease Designated Physician"
First, the patient should inquire at the municipal government or health center in the municipality of their residence and obtain the necessary documents, such as the Clinical Survey Individual Sheet. Next, the patient should consult with their attending physician about applying for the disease to be recognized as a designated intractable disease. Although the application requires that a physician fills out the "Clinical Survey Individual Sheet," this physician must be a designated intractable disease physician. Such physicians are generally found at university hospitals and other large hospitals.

4. What are the details of financial support for medical expenses?
First, under the conditions of medical health insurance, typically, the patient's out-of-pocket payment is 30%. However, when receiving medical expense financial support, the patient out-of-pocket payment is 20%. In addition, the maximum limit of the patient's out-of-pocket payment is on a six-step system that is determined according to the patient's total household income (taxable income). Thus, the patient would pay either 20% of the total medical costs incurred by examinations related to the intractable disease or the maximum out-of-pocket payment, whichever is the lower of the two.
There are, however, several points that must be kept in mind:
(1) Total medical costs are included in the calculation, including inpatient and outpatient medical costs. In addition, in cases where a patient is examined and treated at multiple medical facilities, the total cost incurred at all these medical facilities is calculated. Furthermore, in cases where there are multiple intractable disease patients in a single household, the maximum limit on the out-of-pocket payment is lowered.
(2) In cases of "high cost, long-term" treatment, i.e., costly medical treatment that continues over a long period, the maximum out-of-pocket payment is lowered. Specifically, "months in which the total medical costs are 50,000 yen or more occur at least six times per year."
(3) Even patients with "mild" disease severity as determined by the level of severity classification are eligible for financial support for their medical expenses through the "mild/long-term" system. Specifically, patients are eligible if the "months in which the total medical costs are at least 33,330 yen (=at the 30% out-of-pocket payment level, at least 10,000 yen per month) occur at least three times per year."

5.Transitional measures for specific diseases
PBC and Budd-Chiari syndrome qualify for medical expense financial support through the Specific Disease Treatment Research Program. Other diseases, including AIH and PSC, have become eligible for public financial support provided by local municipalities. Under the transitional measures program, patients with these diseases continued to receive the same medical expense financial support as they had previously received up to December 31, 2017. However, once the transitional measure system ended, a determination was made on whether they were eligible for medical expense financial support based on the abovementioned level of severity classification. The severity classification for PBC has not changed since it was considered a specific disease, so there have been no changes in the qualifications for financial support. However, in the case of AIH and PSC, if new severity level classifications are adopted, the number of people who no longer qualify for financial support due to their having a "mild" level of severity may increase.

6.Be sure to apply
Patients whose level of severity classification is determined to be mild or severe qualify for medical expense financial support for an intractable disease, and thus patients with mild disease continue to be wary of applying. However, as mentioned above, even patients with mild severity can qualify for financial support if they must pay high medical costs. In addition, the application system also serves as a way for the national government to obtain valuable data on trends in intractable disease patients. If patients with mild severity do not apply, then the government's data may be skewed toward patients with moderate and severe disease. All patients should consult with their attending physician and apply for financial support.

Table 1. Level of severity classification for AIH, PBC, and PSC

Autoimmune hepatitis (AIH)

  1. Moderate or severe, as determined using the severity level criteria of the Autoimmune Hepatitis Diagnostic and Treatment Guidelines (2013)
  2. Patients who are histologically or clinically diagnosed with cirrhosis of the liver

Primary biliary cholangitis (PBC)
  Symptomatic PBC (patients with symptoms)

Primary sclerosing cholangitis (PSC)

  1. Symptomatic patients (e.g., jaundice, skin itchiness, cholangitis, ascites, digestive tract bleeding, hepatic encephalopathy, and cholangiocarcinoma)
  2. Patients with at least double the medical facility's upper limit for ALP
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