World Amyloidosis Day: Doctors Urge Greater Awareness of an Often Missed Disease

World Amyloidosis Day, observed on 26 October, draws attention to a disease that often goes unrecognised. In amyloidosis, an abnormally structured protein called amyloid builds up in the body and can damage various tissues and organs. In Latvia, around 30 patients have been diagnosed, but epidemiological data suggest the real figure could be almost ten times higher. This means many people may not be receiving appropriate treatment.

What ATTR amyloidosis is

Two forms matter most in cardiac amyloidosis: AL amyloidosis and transthyretin (ATTR) amyloidosis. A typical patient with the age-related ATTR form is a man over 65–70 who has developed heart failure, thickening of the heart walls or rhythm disturbances.

Ainārs Rudzītis, associate professor at Riga Stradiņš University and a cardiologist at the Latvian Centre of Cardiology, says the disease is not as rare as once believed; rather, it is under-recognised. Patients may see various specialists for years with seemingly unrelated complaints. He highlights carpal tunnel syndrome, especially in both hands, as an important clue that can appear several years before heart symptoms.

Signs to watch for

Further testing may be considered if, after age 65, several signs occur together: unexplained heart failure and heart wall thickening, previously high blood pressure that has become unusually low, rhythm disturbances, shortness of breath, fatigue, leg swelling, carpal tunnel syndrome, narrowing of the spinal canal, tingling in the hands and feet, and diarrhoea or constipation. Individually, these signs do not mean amyloidosis.

Valdis Ģībietis, chief internist at Pauls Stradiņš Clinical University Hospital, advises patients to note down past diagnoses and operations, as they may be important clues for a doctor.

Diagnosis and treatment

One of the first tests is a heart ultrasound, but it alone cannot confirm the diagnosis. Blood and urine tests are needed to assess AL amyloidosis. For ATTR, scintigraphy with a radioactive tracer is important, and in certain conditions the diagnosis can be confirmed without a heart biopsy. Genetic testing then shows whether the disease is hereditary.

Two modern therapies are available in Latvia and can be provided to patients with a confirmed diagnosis under individual compensation, following a decision by a panel of specialists. Patients with suspected amyloidosis can receive state-funded tests at the Rare Diseases Office of Stradiņš Hospital with a referral from a family doctor, cardiologist or another specialist.