Tag: Rare diseases

Giant platelets, also known as macrothrombocytes, are a key feature of several rare inherited bleeding disorders known as macrothrombocytopenias. The most well-known disease associated with giant platelets is Bernard-Soulier syndrome (BSS), which impairs blood clotting and can lead to excessive bleeding.

With many medical abbreviations sharing the same letters, confusion is common; in the case of HPS, the acronym can refer to several different and unrelated health conditions. A single abbreviation like **What is HPS in medical terms?** is not enough for an accurate diagnosis, and a patient's context is essential to determine which syndrome is being discussed.

According to research from institutions like the National Institutes of Health, millions of people worldwide live with conditions for which medical professionals have yet to find a specific cause. This situation leads to the diagnosis of **what is a no known medical cause**, a term that can be both frustrating and challenging for patients and doctors alike. While the journey can be difficult, understanding the terminology and process is the first step toward effective management and empowerment.

According to the National Institutes of Health (NIH), medical product developers use a planning tool called a Target Product Profile (TPP) to guide the creation of new therapeutics. However, this is just one of several meanings for the acronym; the answer to 'What is TPP short for?' depends heavily on the specific medical or health context.

In 1952, a unique bleeding disorder was identified in a five-year-old Canadian boy named Stephen Christmas. Researchers published their findings and, as a result, the medical condition became known as Christmas disease, answering the question: **Why is it called Christmas disease?**. This name is a patient eponym and has no connection to the holiday season.

Affecting an estimated 1 in 500,000 people globally, factor VII (7) deficiency is a rare inherited bleeding disorder that is entirely separate from hemophilia. While both conditions disrupt the body's normal blood clotting process and can cause excessive bleeding, they are fundamentally different based on their genetic cause and the specific clotting factor involved.

While it's estimated that over 7,000 distinct rare diseases exist, with 95% lacking an FDA-approved treatment, the question "Are rare diseases treatable?" is increasingly answered with a resounding "Yes" for a growing number of conditions. Advancements in medical science have shifted the focus from merely managing symptoms to developing groundbreaking, targeted therapies.

Affecting an estimated 1 in 7,500 people worldwide, Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder caused by structural or functional defects in the body's cilia. This chronic condition primarily impacts the respiratory system by disrupting mucus clearance, leading to persistent infections and progressive lung damage.

According to the Centers for Disease Control and Prevention (CDC), some conditions like Creutzfeldt-Jakob disease are considered "always fatal," progressing rapidly and without a cure. Understanding what disease has the lowest chance of survival requires looking beyond the most common causes of death to focus on those with the highest case fatality rates.

While medical science has made unprecedented advancements, a small but significant percentage of illnesses, including rare and multi-system syndromes, remain without identifiable causes. Understanding what diseases have an unknown cause can provide important context for both patients and the ongoing research dedicated to uncovering these medical mysteries.