Patient aged 76 years, with a history of thalassaemia minor, type 2 diabetes mellitus, adequately controlled with low doses of oral antidiabetics (Hb 1AC 6.8). He had an appendectomy in his youth and a testicular hydrocele surgery.
The patient was admitted due to a 15-year history of incapacitating syncope and orthostatic syncope, which had even functionally limited him in recent years, to the point of preventing him from going out in the street. He was partially studied for this reason in 1996. In this study, a complete paroxysmal AV block was found, which was initially interpreted as the cause of the symptoms, so that a VDD pacemaker was inserted without the patient's symptoms having completely subsided. It was decided to extend the study at the time, and an echocardiogram was performed, which except for a slight hypertrophy of the left ventricle showed no other alterations, as well as an abdominal CT scan, which was normal. The neurological examination was normal at the time. The patient was discharged with the diagnosis of idiopathic orthostatic syncope, and treatment was started with etilefrin, spironolactone and fludocortisone.
The patient, however, did not improve his symptoms, presenting syncope on orthostasis almost daily, with frequent trauma, together with a state of presyncope maintained while the patient remained seated. Given the incapacitating symptoms, it was decided to admit the patient to complete the study and adjust the treatment.
In the anamnesis, in addition to the syncope, the patient only reported nocturia 4-5 times a day, and diarrhoea of 4-5 abundant watery stools, without pathological products, of about ten years of evolution, not accompanied by weight loss or toxic symptoms. The anamnesis by organs and apparatus was negative. Physical examination revealed a significant drop in BP on sitting compared to lying down, from around 120/80 mm Hg to 60/40 mm Hg, with no other manifestations other than an intense pre-syncopal sensation. During these episodes, the patient had no sweating or compensatory tachycardia. Physical examination only showed some behavioural disinhibition of the patient, not accompanied by signs of frontal release. The rest of the neurological and general examination was normal.
The following complementary tests were performed for the study of the patient: biochemistry: glucose 127; cre 1.16; total proteins 7; albumin 3.78; calcium 9.9; phosphorus 2.9; uric acid 8; cholesterol 125; triglycerides 174; sodium 140; potassium 4.76.
CBC: leukocytes 6,740 (normal formula); red blood cells 4.34; Hb 9.7; MCV 68.7; platelets 169,000.
Liver profile: normal. Vitamin B12 levels 925 and folic acid 16.
Hormonal study: prolactin 10.4; FSH 9.2; LH 7.3; testosterone 277; night cortisol 9; basal cortisol 38; rhythm cortisol 76%; total porphyrins < 200; aldolase 3.
Electrophoretic spectrum: albumin 53.8%; alpha1 3.3%; alpha2 15.3%; beta 13.7%; gamma 13.9%. Blood in stool: negative. Cranial CT scan: The study showed signs of diffuse atrophy in relation to the patient's age, with no other relevant findings. Colonoscopy: No lesions were seen in the areas visualised. Biopsies were taken from the proximal descending colon to rule out macroscopic colitis. Small diverticular orifices throughout the colon. Biopsy of colorectal mucosa: usual characteristics. Specific staining for amyloid was performed and was negative. Echocardiogram: hypertrophic left ventricle with systolic function at low limits of normality with slight global hypokinesia. Mild mitral insufficiency. No evidence of amyloidosis.
Arrhythmological study: VDD pacemaker with single lead, normofunctioning. The pacing rate was reduced without obtaining ventricular rhythm (complete AV block with ventricular pacing at 40 bpm). Cold pressure test: BP with the patient in decubitus position 112/68. After 30" with hand on ice: BP 108/56.
HIV serology: Negative. Chest X-ray: No significant findings. Abdominopelvic CT scan: No significant lesions. Plasma catecholamine levels in decubitus and seated position: low basal levels, without the expected elevation in seated position. Urine catecholamine levels: low.
Given the normality of the complementary tests, the diagnosis of pure autonomic failure is established, withdrawing the hypotensive drugs from the treatment, maintaining only etilefrine and fludocortisone, together with symptomatic measures, subjectively improving the patient.