Category: Rare diseases

Kawasaki Disease: A 50 year old mystery

By Stephanie Menikou, PhD student, Faculty of Medicine

Kawasaki disease (KD) was first identified in 1967 by the Japanese paediatrician Tomisaku Kawasaki. He saw his first case in 1960 and over a period of six years he identified 50 cases of this distinct unusual illness.1 50 years later, we still don’t know its cause, or whether it is caused by an infectious organism, a toxin, a chemical substance or something else. Kawasaki disease has emerged as the most common cause of childhood heart disease in many developed countries.2 Over 60 countries around the globe have reported cases and currently in many countries it’s on the rise.

Sickle cell anaemia – a rare disease of increasing global importance

By Professor Thomas Williams, Chair in Haemoglobinopathy Research, Faculty of Medicine, Department of Medicine

Sickle Cell Disease (SCD) is the commonest serious genetic condition of humans. The disease is caused by an inherited defect in haemoglobin, the red pigment within red cells that is important for the carriage of oxygen in the blood, and results in a life-long illness characterised by recurrent pain, ill health and chronic anaemia.

Cholangiocarcinoma: What is it and why is it so prevalent In Thailand?

By Imperial medical students Thomas Hughes and Thomas O’Connor 

Today, 17th February 2016, marks the first ever World Cholangiocarcinoma Day.

Cholangiocarcinoma (CCA) is a primary liver cancer, usually formed from glandular structures in the epithelial tissue (adenocarcinomatous). It occurs in the bile ducts and is classed as being either intra-hepatic (IHCC) or extra-hepatic (EHCC) depending on whether the tumour forms inside or outside of the liver.

CCA is the second most common form of primary hepatic malignancies in the world, with survival beyond a year of diagnosis being <5%.[1] It represents 30% of primary hepatic malignancies with a mean survival rate of 3-6 months after diagnosis, due mostly to the late presentation of symptoms which massively reduces treatment success rates.