Dr. House, MKSE and Rare Diseases – Part 1
In the US television series Dr. House took care of a chronic, leg-aching, unfriendly but ingenious doctor named Gregory House for cases where all the other doctors failed. In reality utopian? Not necessarily.
There are many diseases in which the Germans suffer, sometimes not so rare, but most of them are completely unknown. We would like to change that and introduce some of the not so well-known, rather rare diseases of Germans.
A systemic disease of the entire connective tissue with granuloma formation. A granuloma is an inflammation-related nodular tissue regeneration. Sarcoidosis can affect lymph nodes and lungs (especially common), liver and spleen (common), skeleton and skin (less common), ocular and bone marrow (partial) and heart (rare).
Symptoms include upper chest tightness, increased cough, lymph node swelling, fatigue and joint pain (others possible).
Also cystic fibrosis, a genetically inheritable metabolic disease. Malfunctioning causes all secretions of the glands in the bronchi, pancreas, liver (especially bile), internal genitalia and small intestine to become viscous.
Symptoms: chronic cough and lack of oxygen, watch glass nails, drumstick fingers, indigestion, liver cirrhosis, gallstones (others possible).
Through a tumor in the pituitary (pituitary gland) is too much ACTH (adrenocorticotropin) produced. Increased stimulation of the adrenal cortex produces an excessive amount of cortisol (stress hormone).
Symptoms: Round moon face, thin arms and legs with a thick trunk with bull’s neck, osteoporosis (increased bone fragility), arterial hypertension (increased blood pressure) and increased thirst (others possible).
There are benign, tumor-like angions (tissue changes), usually in the retina of the eye and the cerebellum. The brainstem and spinal cord may also be affected in the central nervous system.
Symptoms: hemangiomas in the retina and hemangioblastoma in the cerebellum, multiple haemangioblastomas of the posterior fossa, resulting in hemorrhage of the brainstem (others possible).
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