Interdisciplinay Centre of
Exercise and Sports Medicine
Wuppertal e.V.

Rare Diseases


Amyloidosis comprises a variety of diseases which reveal a deposition of abnormally changed, insoluble proteins (amyloid) in intra- and extracellular space. In familiar amyloidosis, which represents an autosomal-dominant disorder, modified proteins result from damage of genetic material. One of the most frequent proteins affected is the blood protein, transthyretin (TTR) which is almost exclusively produced in the liver. Thereby, transthyretin-amyloidosis (ATTR) occurs. With a prevalence rate of 1,1:100.000, ATTR mainly occurs in adulthood, along with limited treatment options. The insoluble transthyretin primarily deposits in the peripheral nervous system and/or cardiac muscles and causes damage there. Dependent on the organs infested, two classic types of manifestations are distinguished between:

  • transthyretin-associated familial amyloidotic polyneuropathy and
  • transthyretin-associated familial amyloidotic cardioneuropathy.

However, 80% of the incidents reveal a mixed form of both, in which people affected suffer from neurological as well as cardial symptoms (neuropathy & cardiomyopathy). At the beginning, ATTR show only a few specific symptoms. Usually, patients notice a loss of sensorial function in hands and feet (loss of temperature sensitivity, change of perception of pain) which progressively proceeds, accompanied by a reduction of motoric skills. Furthermore, patients suffer from neuropathic pain as well as disorders of the autonomous nervous system, often in combination with an enormous weight loss. According to the type of mutation, gastrointestinal tract, eyes and kidneys can be affected, too. Patients with cardical limitations mainly suffer from diastolic dysfunctions, arrhythmia and cardiac insufficiency.

Studies reveal that neurologic dysfunctions come along with loss of muscle strength and coordinative skills. Simple walking becomes increasingly difficult and the risk of falling increases. A general restricted physical performance and increasing immobility lead to a significant loss of quality of life of patients with ATTR. A specific training therapy could contribute to reduce side effects of ATTR and thereby strongly increase the quality of life of people affected. Primary studies reveal success of specific training therapies on body composition and performance capacity of people of different subgroups of amyloidosis.