Table 2 Clinical Data Summary
From: Brazilian registry of patients with porphyria: REBRAPPO study
Clinical characteristics | Population (%) |
|---|---|
Porphyria’s Subtype (N = 172) | |
Acute Hepatic Porphyria (AHP) | 148 (86%) |
Erythropoietic Porphyria (EP) | 4 (2.3%) |
Unknown | 20 (11.6%) |
Diagnostic methods (N = 172) | |
Genetic Test + Biochemical Analysis | 104 (60.4%) |
Biochemical Test | 68 (39.5%) |
Acute hepatic porphyria population | |
Subtypes of Acute Hepatic Porphyria (N = 148) | |
Acute intermittent porphyria | 118 (79.7%) |
Variegate Porphyria | 16 (10.8%) |
Hereditary Coproporphyria | 9 (6.0%) |
ALAD Deficiency Porphyria | 2 (1.35%) |
Definitive Diagnosis performed by | |
Neurologist | 72 (48.6%) |
Hematologist | 34 (22.9%) |
Geneticist | 17 (11.4%) |
Gastroenterologist / Hepatologist | 12 (8.1%) |
Pediatrician | 4 (2.7%) |
Rheumatologist | 3 (2%) |
Intensive Care / Emergency Medicine | 3 (2%) |
Psychiatry | 2 (1.3%) |
Dermatologist | 1 (0.6%) |
Family History | |
Negative | 54 (36.4%) |
1 relative with AHP | 47 (31.7%) |
2–5 relatives with AHP | 24 (16.2%) |
5–10 relatives with AHP | 12 (8.1%) |
> 10 relatives with AHP | 11 (7.4%) |
First Clinical Complaint | |
Abdominal Pain | 77 (52%) |
Acute Muscle Weakness | 23 (15.5%) |
Acute Encephalopathy | 16 (10.8%) |
Dark Urine | 13 (8.7%) |
Skin Abnormalities | 9 (6.0%) |
Acute Psychosis | 8 (5.4%) |
Seizures | 2 (1.3%) |
Number of Attacks (life) | |
1 attack | 73 (49.3%) |
2 attacks | 15 (10.1%) |
3 attacks | 7 (4.7%) |
4 attacks | 3 (2.0%) |
5–10 attacks | 21 (14.1%) |
11–20 attacks | 15 (10.1%) |
> 20 attacks | 14 (9.4%) |
Number of Attacks (last year) | |
None | 70 (47.2%) |
1 attack | 30 (20.2%) |
2–3 attacks | 11 (7.4%) |
4 or more attacks | 37 (25%) |
Long-Term Complications | |
Chronic Symptoms | 105 (70.9%) |
Systemic Arterial Hypertension | 52 (35.1%) |
Family History for Hepatocarcinoma | 8 (5.4%) |
Chronic Renal Disease Stage V | 5 (3.3%) |