Dr. Björn Hoffmann, Prof. Dr. Michael Beck, Prof. Dr. Arndt Rolfs, Prof. Dr. Hartmut P.H. Neumann:
Morbus Fabry – Clinic Complex, simple Diagnostic, Causality Therapy
The Morbus Fabry is a congenital immune disorder of the Lysosomale memory disease group caused by a difficiency of the alpha-Galaktosidase A enzyme. The result is the accumulation of Globotriaosylceramid in almost every cell of the body. Affected organs can no longer fulfill their proper functions and leads to a progressive damage of many organs. Angiokeratome, Akroparästhesien, Proteinurie , Hornhauttrübung (cornea nebula), and gastro intestinal disturbances are often manisfested as early as childhood. With age cardiac (cardiomyopathie), renal (progressive kidney insufficience) and central nervous system manifestations (TIA/Apoplex) become more prominent. Without treatment the affected patients succumb by ca. 55 years of age (male) resp. 70 years of age (female). Since 2001 there is treatment possibility in the form of the Enyzm-Ersatz-Therapie (Enzyme Replacement Therapy) for Morbus Fabry. Therefore the prognosis for the patient may be largely dependent upon early diagnosis and therapy. However there is still an average of 13 years between the occurrance of the first symptoms and a diagnosis.
With the now existing work of the variable clinical overview of Morbus Fabry has compiled enabling guidance for a rational diagonis and therapy for M. Fabry.
The complete article can be ordered from das Kontaktformular as pdf-file.
New Publication on the subject of Morbus Fabry
My biggest enemy is in me – a story of survival
To have a rare disease is a curse, especially in Germany. It is a torture of pain, waiting and consolation, and often the patient is considered to be a hypochondriac . Gerald Uhlig-Romero recalls his decades-long odyssee with different physicians, charlatans and miracle healers. His book is a touching story of the courage to live and persistance.
Healthy people can hardly imagine the suffering of seriously ill persons : they not only battle against their pain and handicaps, but above all, against their own fears and feelings of helplessness. And they must deal with the ignorance of their surroundings, starting with family and friends who turn away in helplessness, to physicians and health politicians who all too often lack fantasy and imagination to help, to the general public that suppresses the realization of disease and death.
Gerald Uhlig-Romero is the carrier of an inherited gene difficency (Morbus Fabry) that expresses itself with symptoms such as pain attacks, fever, cornea nebula, heart problems and kidney failure and in most cases leads to death. It wasn’t until the age of 53 that this problem was able to be diagnosed and treated – never ending despair and torturous years of viagra ( ?) that resulted in the necessity of a kidney transplant. The author has managed to have a successful life in spite of this destiny. In this book he recounts how he was able to confront his desease at school, in the family and his occupation in an anecdotally amusing, combative, angry, sad and optimistic manner.
• An authentic destiny, grippingly told
• A fiery pleading for better medicine and a change of thinking about the current organ donation practice.
• The owner of the legendary « Café Einstein“ is very active in the battle for recognition of rare diseases
Und trotzdem lebe ich: My battle against a puzzling disease
Gerald Uhlig-Romero Dva publisher
expected publication early April 2009