Addison’s Disease

Addison’s Disease: Causes

Pathogenesis (disease development) The causes of primary adrenocortical insufficiency (primary NNR insufficiency) are diverse: Genetic causes (frequency: very rare): Adrenoleukodystrophy (synonyms: X-ALD; Addison-Schilder syndrome) – X-linked recessive disorder leading to a defect in steroid hormone synthesis with accumulation of overlong-chain fatty acids in the NNR and CNS; consequently, neurological deficits and dementia develop with onset … Addison’s Disease: Causes

Addison’s Disease: Medical History

Medical history (history of illness) represents an important component in the diagnosis of Addison’s disease. Family history Is there a frequent history of metabolic disorders in your family? Social anamnesis Current medical history/systemic history (somatic and psychological complaints). Have you noticed symptoms such as loss of appetite, abdominal pain, nausea, and vomiting? Do you feel … Addison’s Disease: Medical History

Addison’s Disease: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Congenital adrenal hypoplasia (underdevelopment of the adrenal glands)-genetic disorder with both autosomal dominant and autosomal recessive inheritance; severe adrenal insufficiency (adrenal weakness) manifesting shortly after birth; males exhibit pseudohermaphroditism (form of intersexuality in which the chromosomal and gonadal sexes are male) Smith-Lemli-Opitz syndrome (synonym: RSH syndrome (Opitz)) – … Addison’s Disease: Or something else? Differential Diagnosis

Addison’s Disease: Complications

The following are the most important diseases or complications that can occur as a result of underdosing* or overdosing of drug therapy in Addison’s disease: Endocrine, nutritional, and metabolic disorders (E00-E90). Diabetes mellitus (diabetes). Dwarfism* Cushing’s disease – disease caused by an increased supply of glucocorticoids. Addison’s crisis (salt wasting crisis; severe circulatory disturbances that … Addison’s Disease: Complications

Addison’s Disease: Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, body height; further: Inspection (viewing). Skin, mucous membranes and sclerae (white part of the eye) [bronze colored skin, dehydration (lack of fluids)]. Auscultation (listening) of the heart. Auscultation of the lungs … Addison’s Disease: Examination

Addison’s Disease: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests. Hormone diagnostics Stage I Cortisol, free (8:00 a.m.) [↓]; cortisol in 24-hour urine [↓] Note: A normal baseline cortisol level (approximately 30% of cases) does not rule out Addison’s disease! ACTH [↑] TSH Aldosterone [↓; serum aldosterone was below the detection limit in two-thirds of patients] ] … Addison’s Disease: Test and Diagnosis

Addison’s Disease: Drug Therapy

Therapeutic target Compensation of hormone deficiency Therapy recommendations Therapy with glucocorticoids/mineralocorticoids: 20-30 mg hydrocortisone (mimicking circadian rhythm about 50-60% of the dose in the morning: for example, according to the scheme 10-5-5 or 15-5-0 mg); 0.1 mg fludrocortisone; In an emergency, an i.m. injection/suppository of, for example, 100 mg hydrocortisone is administered Addisonian crisis: intensive … Addison’s Disease: Drug Therapy

Addison’s Disease: Diagnostic Tests

Obligatory medical device diagnostics. Sonography (ultrasonography) of the adrenal glands. Optional medical device diagnostics – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification. Abdominal voiding radiography – to exclude calcifications of the adrenal glands. Computed tomography (CT) of the abdomen (abdominal CT) – to evaluate … Addison’s Disease: Diagnostic Tests

Addison’s Disease: Symptoms, Complaints, Signs

Patients become symptomatic only when there is tissue loss (= destruction of the hormone-producing cells of the adrenal cortex, NNR) of more than 90% of both NNR. The following symptoms and complaints may indicate Addison’s disease: Neonates/infants Hypoglycemia (low blood sugar). Dehydration (lack of fluid) Cholestasis (bile stasis) Failure to thrive Recurrent vomiting Salt wasting … Addison’s Disease: Symptoms, Complaints, Signs