Acromegaly
| Classification according to ICD-10 | |
|---|---|
| E22.0 | Acromegaly and pituitary tall stature |
| ICD-10 online (WHO version 2019) | |
As acromegaly (from ancient Greek ἄκρος akros , extremely '+ μέγας megas , large') is a distinct chronic, by an excess of growth hormone ( somatotropin caused) magnification of acral (distal parts (peripheral ends) of the limbs and projecting parts of the Body ). These include B. Hands, feet, chin, ears, nose and the external genitals .
The disease got its name in 1886 from the French neurologist Pierre Marie , which is why it is sometimes also called (Pierre-) Marie syndrome . Another synonym that is occasionally used is pachyakrie (old Greek παχύς pachýs , 'thick').
The incidence (rate of new infections) is around three to four people per million inhabitants per year, the prevalence (frequency of illness) in Germany is around 3,000 to 6,000 people.
causes
Acromegaly is an endocrine disorder caused by an overproduction of growth hormone somatropin is caused. In 95 percent of the cases the disease is based on a growth hormone- producing adenoma (benign tumor ) in the adenohypophysis (anterior lobe of the pituitary gland ), only rarely a malignant tumor.
Very rarely, acromegaly occurs as part of hereditary diseases , e.g. B. Berardinelli type lipodystrophy .
The use of somatropin in people without an existing deficiency leads to acromegaly with severe side effects, which are often irreversible.
Symptoms
The symptoms of acromegaly are determined by whether the disease occurs before or after the epiphyseal plates close , i.e. H. before or after puberty :
Before the end of the growth in length, so-called gigantism or giant pituitary growth occurs. The normal body proportions are largely retained, ie the person then continues to grow in length.
After the epiphyseal plates are closed, growth is only possible on the bony acres, soft tissues such as the larynx and internal organs. The organs enlarge as a whole, called visceromegaly. An example of this is the goiter . The skin becomes thicker and hair growth is stimulated. Uncoordinated excess of articular cartilage predisposes to degenerative joint diseases . As a result of this growth, the body proportions appear generally inharmonious and coarse.
Further symptoms are caused by diabetes or at least reduced glucose tolerance. The gradual decline in the ability to have an active sex life, caused by a weak erectile dysfunction , alleviated by a simultaneous lack of interest in it, may prove to be stressful . In women, secondary amenorrhea , i.e. a lack of menstruation, and at the same time apparently unmotivated milk production , known as galactorrhea-amenorrhea syndrome, rarely occurs in women . 30% of patients continuously measure high blood pressure .
Patients often complain of headaches and general fatigue, as well as bone pain. An increased tendency to sweat is not uncommon. Numbness or tingling in the hands suggests carpal tunnel syndrome . Bilateral manifestation is found in up to 64% of patients with acromegaly, which usually disappears after treatment of the acromegaly.
More than 90% of the patients have a sleep apnea syndrome with snoring, nocturnal respiratory arrest and hardly any restful night sleep. Those affected rarely notice the slow transformation of their physiognomy themselves, but a comparison with old photographs can be informative; Another indication is an increase in hat or shoe sizes in adulthood.
Orthodontic consultations because of an increasing misalignment of the dentition (for example due to a lower jaw that is larger than the upper jaw, progeny ) are not uncommon.
If the growth of the pituitary tumor leads to visual field deficits or other cranial nerve deficits as a result of local pressure effects , the stage of serious complications has clearly been reached.
forecast
The life expectancy of people with acromegaly is significantly reduced, and mortality is two to four times higher than that of the average collective. This is due on the one hand to the direct manifestations of the disease, but on the other hand to the sequelae such as accompanying high blood pressure and diabetes, which lead to an increased rate of cardiovascular diseases. Whether there is an increased willingness to develop cancer, namely colon cancer, is currently considered controversial.
Diagnosis
Acromegaly is insidious, which makes diagnosis difficult. Often their symptoms are initially misinterpreted. Acromegaly is rarely suspected. So it happens that the diagnosis is made on average nine to ten years after the onset of symptoms.
In addition to the typical clinical picture of the disease with almost always enlarged hands and feet, determining the hormone activity is crucial.
As soon as acromegaly is suspected, IGF- 1 (insulin-like growth factor-I) should first be determined. This hormone is best suited both as a screening test and to assess the success of a treatment, since acromegaly is extremely rare at normal levels.
The determination of the growth hormone (also: GH = Growth Hormone = Somatotropin = Somatotropic Hormone = STH) itself is possible, but much less sensitive and therefore of little importance. For this reason, the more sensitive measurement of growth hormone after a challenge with glucose ( STH suppression test in the oral glucose tolerance test OGTT) has been in use for over 40 years . The determination of the growth hormone releasing factor (GHRF) has no practical significance.
Rarely does acromegaly occur as part of a genetic syndrome. These include multiple endocrine neoplasia type 1 (MEN 1), McCune-Albright syndrome, familial acromegaly and the Carney complex . For further diagnosis (tumor detection), CT and MRI are also used .
therapy
The therapy of choice is the surgical removal of the pituitary gland tumor or part of the pituitary gland. A transsphenoidal (through the nose and parts of the paranasal sinuses) and transcranial (through the top of the skull) access are available for the operation.
Drug treatment is required after surgery if the hormone-producing tissue has not been completely removed. Several groups of active ingredients are available for drug treatment: the dopamine agonists cabergoline (Cabaseril ® ) and bromocriptine (Pravidel ® ), the somatostatin analogues octreotide (Sandostatin ® ), lanreotide (Somatuline Autogel ® ) and pasireotide (Signifor ® ) and the growth hormone antagonist pegvisertomant ® ). If necessary, drug therapy may be used prior to surgical removal for a large tumor. The aim of pretreatment with the drugs mentioned is to shrink the tumor and improve the general condition of the patient.
Drug treatment alone should only be reserved for a small group of patients.
In the case of large inoperable hormone tumors or for the treatment of residual tumors after surgery, different methods of radiation therapy (especially with X-rays) are successfully used.
literature
- P. Chanson, S. Salenave: Acromegaly. In: Orphanet J Rare Dis. 2008 Jun 25; 3, p. 17. Review. PMID 18578866 , PMC 2459162 (free full text)
Web links
Individual evidence
- ^ Pierre Marie: Sur deux cas d'acromégalie. Hypertrophy singulaire no congénitale des extrémités supérieures, inférieures et cephalique. In: Revue Méd Franç (Paris) . tape 6 , 1886, p. 297-333 .
- ↑ Ursula Plöckinger : Acromegaly. ( PHP ) "Patients" ↳ "Diseases" section. In: endokrinologie.net. German Society of Endocrinology e. V. (DGE), accessed on April 1, 2015 .
- ↑ a b AACE Acromegaly Guidelines Task Force. AACE Medical Guidelines for Clinical Practice for the diagnosis and treatment of acromegaly. In: Endocrine Practice. 2004 May-Jun; 10 (3), pp. 213-225. PMID 15382339 .
- ↑ Carpal tunnel syndrome and acromegaly. In: Acta Neurochirurgica . 1986, 83, pp. 54-55.
- ^ Alfred Kantorowicz : Inhibition and promotion of the growth of the jaw. In: Dental World. No. 6, 1949, pp. 141-148 and 151 f.
- ↑ JD Nabarro: Acromegaly . Review. In: Clin Endocrinol (Oxf). 1987; 26 (4), pp. 481-512. PMID 3308190 .
- ↑ Living with Pituitary Tumors: Acromegaly .
