What Are Idiopathic Diseases and How Do They Impact People?

An idiopathic disease is a condition that does not have an identifiable cause. Despite extensive investigation, no underlying reason for the illness can be determined. This blog explores what idiopathic diseases are and their effect on patients. 

Understanding idiopathic diseases 

A condition is termed ‘idiopathic’ when no underlying reason is identified despite broad investigation or if all other possible causes are ruled out. Idiopathic diseases are often challenging in diagnosis and management, making the medical science complex to understand due to their unknown cause and unpredictable nature. To gain a deeper understanding of the causes behind idiopathic diseases, it is essential to invest more in research and conduct advanced studies.  

Common idiopathic diseases 

• Idiopathic pulmonary fibrosis (IPF): This is a progressive lung disorder that includes shortness of breath, nonproductive cough and severe dyspnoea. The cause of idiopathic pulmonary fibrosis is often unknown. However, research suggests genetic mutations are a major cause in most cases. According to the study, mutations in telomerase and surfactant genes are known to be linked with IPF. However, the majority of genetic factors have been found in familial cases. Research has shown that IPF prevalence is higher in older individuals and males. In contrast, familial IPF tends to be present at younger ages, which is less common.
• Idiopathic intracranial hypertension (IIH): This condition occurs due to increased pressure inside the skull, causing symptoms such as vision problems, headaches and body discomfort. Idiopathic intracranial hypertension happens when there are disturbances in the flow of cerebrospinal fluid surrounding the brain and spinal cord. The exact cause of IIH is not known, but hormones play an important role, and this condition is found to be more common in obese women. The condition is also linked to certain infections and medications such as steroids.
• Fibromyalgia: This condition is characterised by chronic pain with unknown cause and is often triggered by physical or emotional stressors such as infections, trauma or emotional strain. Fibromyalgia is more common in women, and the condition is known to be the leading cause of generalised musculoskeletal pain in women between the ages of 20 and 55. 
• Idiopathic thrombocytopenic purpura (ITP): This is the haematological condition characterised by low platelet count without known cause. Many individuals do not exhibit symptoms. However, when platelet count goes to extremely low levels, it can result in bleeding tendency and the appearance of purplish spots on the skin. Despite extensive research, the exact cause of low platelet count in ITP remains unclear. Hence, this condition of platelet deficiency is called Idiopathic thrombocytopenic purpura.  

Impact on patients 

Living with idiopathic disease can be immensely frustrating and emotionally challenging to the patients. The uncertainty surrounding their condition can often lead to a prolonged diagnostic journey and multiple medical consultations. Moreover, the absence of a definitive cause can lead to disbelief from outsiders or denial of symptoms, both of which add to the pain of those affected. In return, this can spark a sense of isolation and anxiousness as patients battle to seek out affirmation and understanding for their situation. The physical symptoms greatly affect their quality of life and emotional burden, so support and care need to be comprehensive and empathic. 

Support options 

Although managing idiopathic diseases looks stressful with advancements in medical science and breakthrough diagnostic procedures, the condition can be managed with better care and improved outcomes. Patients with idiopathic disease have several supportive options to manage their condition. 

• Medical support: Patients can consult specialists such as haematologists and immunologists who are available in many multi-speciality hospitals. They help prepare personalised treatment plans.
• Educational resources: Organisations like Autoimmune Association offer a wealth of resources, including information on disease management, treatment options and patient rights.
• Lifestyle and dietary guidance: One can always consult a nutritionist or dietician to manage their diet and lifestyle changes.  

These support options can significantly enhance the quality of life for patients with idiopathic disease and provide them with resources and suggestions to manage their condition with timely care.