Introduction
Hereditary transthyretin amyloidosis, sometimes known as Skellefte disease, is a rare genetic disorder in which abnormal protein deposits (amyloid) build up in the body’s tissues and organs. This condition can affect the nerves, heart, kidneys, and other organs, leading to a range of symptoms that often worsen over time. Early diagnosis and specialized care are important for managing symptoms and improving quality of life.
Causes
Hereditary transthyretin amyloidosis is caused by mutations in the transthyretin (TTR) gene. These mutations cause the transthyretin protein to misfold and form amyloid deposits. The disease is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent carries the gene mutation. The condition is more common in certain regions, such as northern Sweden, where it is sometimes referred to as Skellefte disease.
Symptoms
Symptoms can vary widely depending on which organs are affected. Common early symptoms include numbness, tingling, or weakness in the hands and feet (peripheral neuropathy), as well as digestive problems such as diarrhea or constipation. As the disease progresses, it can cause heart problems (such as irregular heartbeat or heart failure), weight loss, kidney dysfunction, and autonomic nervous system disturbances (such as dizziness or difficulty regulating blood pressure). Symptoms often worsen gradually over time.
Diagnosis
Diagnosis involves a combination of medical history, family history, physical examination, and specialized tests. These may include nerve conduction studies, heart tests (such as echocardiogram or ECG), blood and urine tests, and tissue biopsies to detect amyloid deposits. Genetic testing can confirm the presence of TTR gene mutations. If you have a family history of amyloidosis or develop unexplained neurological or cardiac symptoms, consult a doctor or genetic counselor for evaluation.
Treatment Options
While there is no cure for hereditary transthyretin amyloidosis, several treatments can help manage symptoms and slow disease progression. Medications that stabilize the transthyretin protein or reduce its production may be prescribed. In some cases, liver transplantation has been used, as the liver produces most of the transthyretin protein. Supportive care, including physical therapy, nutritional support, and management of heart or kidney complications, is important for maintaining quality of life.
Simple measures such as regular monitoring, symptom management, and genetic counseling for family members can be helpful. If new symptoms develop or existing symptoms worsen, consult a doctor to review and adjust your care plan.
Prevention
There is no way to prevent hereditary transthyretin amyloidosis in those who inherit the gene mutation. However, genetic counseling and testing can help at-risk families understand their options and plan for the future.
Takeaway
Hereditary transthyretin amyloidosis (Skellefte disease) is a rare but serious condition that requires specialized care and ongoing support. Early diagnosis, symptom management, and genetic counseling are key to improving outcomes and quality of life. If you have a family history or symptoms suggestive of this condition, consult a doctor or genetic counselor for assessment and guidance.