Porphyrias: Or something else? Differential Diagnosis

Certain conditions originating in the perinatal period (P00-P96).

  • Crigler-Najjar syndrome type 1 – neonatal icterus caused by the absence of a specific enzyme (glucuronyltransferase).

Blood, blood-forming organs – immune system (D50-D90).

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Dubin-Johnson syndrome – genetic disease with autosomal recessive inheritance leading to bilirubin excretion disorders; direct hyperbilirubinemia (severe elevation of bilirubin levels in the blood); typically mild icterus without pruritus (jaundice without itching); macroscopic: black liver due to bilirubin pigment storage in the lysosomes (cell organelles).
  • Meulengracht’s disease (Gilbert syndrome) – genetic disease with autosomal dominant inheritance; disorder of bilirubin metabolism; most common familial form of hyperbilirubinemia (increased occurrence of bilirubin in the blood); usually asymptomatic; fasting further increase in bilirubin, which can lead to slightly yellowish eyes.
  • Rotor syndrome – genetic disease with autosomal recessive inheritance; hyperbilirubinemia; usually no symptoms except jaundice (icterus).

Cardiovascular system (I00-I99)

Infectious and parasitic diseases (A00-B99).

  • Hepatitis (inflammation of the liver)
  • HIV infection

Liver, gallbladder and bile ducts – Pancreas (pancreas) (K70-K77; K80-K87).

  • Cholestasis (biliary congestion) (intra/extrahepatic).
  • Cholecystitis (gallbladder inflammation)

Mouth, esophagus (esophagus), stomach, and intestines (K00-K67; K90-K93).

  • Appendicitis (appendicitis).
  • Diverticular disease
  • Ileus (intestinal obstruction)
  • Constipation (constipation)
  • Pancreatitis (inflammation of the pancreas)
  • Irritable bowel syndrome

Musculoskeletal system and connective tissue (M00-M99)

  • Myalgia (muscle pain)
  • Osteoporosis (bone loss)
  • Osteoporosis of the spine

Psyche – nervous system (F00-F99; G00-G99)

Pregnancy, childbirth and puerperium (O00-O99).

Symptoms and abnormal clinical and laboratory findings not elsewhere classified (R00-R99).

  • Abdominal pain (abdominal pain)
  • Acute abdomen
  • Acute paresis (incomplete paralysis)
  • Meteorism (flatulence)
  • Tremor (shaking)
  • Vesicle and bulla (vesicle and blister).

Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).