Preferred Label : Pulmonary hemosiderosis;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : This rare disorder is characterized by the triad of hemoptysis, iron-deficiency anemia,
and transient pulmonary infiltrates by roentgenography. The underlying pathogenetic
mechanism is a propensity to recurrent intrapulmonary hemorrhage. Even though large
amounts of iron are laid down in the lung, with normal or increased total body iron,
anemia occurs because of inability of the erythron to use iron sequestered in pulmonary
macrophages. Pulmonary fibrosis leads to respiratory insufficiency in advanced cases.
Thaell et al. (1978) described the disorder in mother and son and noted its occurrence
in sisters. Ohga et al. (1995) found a total of 39 cases in Japan (12 males and 27
females). They make no mention of familial occurrence. The authors noted that the
predominance of females suggested an autoimmune basis of the disease. *FIELD* RF 1.
Ohga, S.; Takahashi, K.; Miyazaki, S.; Kato, H.; Ueda, K.: Idiopathic pulmonary haemosiderosis
in Japan: 39 possible cases from a survey questionnaire. Europ. J. Pediat. 154: 994-998,
1995. 2. Thaell, J. F.; Greipp, P. R.; Stubbs, S. E.; Siegal, G. P.: Idiopathic pulmonary
hemosiderosis: two cases in a family. Mayo Clin. Proc. 53: 113-118, 1978. *FIELD*
CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 178550;
Origin ID : 178550;
UMLS CUI : C0020807;
Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
