Preferred Label : Pulmonary edema of mountaineers, susceptibility to;
CISMeF acronym : HAPH;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : HAPH; High altitude pulmonary hypertension;
Description : Fred et al. (1962) described acute pulmonary edema precipitated in some persons at
high altitude. Their 2 patients were both physicians who on one or more occasions
were near death from pulmonary edema that developed when skiing at altitudes of 6,000
to 10,000 feet. The father of one of these, previously in good health, died at age
43 while mountain climbing, and acute pulmonary edema was thought to be the cause.
Hultgren et al. (1961) also noted familial occurrence. Cardiac catheterization during
the acute episode showed normal left atrial and pulmonary vein pressures but elevation
of pulmonary artery pressure. Pulmonary edema, it was proposed, results from increased
vasomotor activity of the pulmonary venous capillaries or venules. Cattle differ in
their susceptibility to right-sided heart failure when pastured at high altitudes.
(The heart failure is known as 'brisket disease' because of accumulation of edema
in and over the parasternal muscles. It is due to pulmonary hypertension.) Weir et
al. (1974) could demonstrate no difference in reactivity of pulmonary vasculature
of susceptible and resistant animals. We do not know the precise physiologic mechanism
of the presumably genetically based adaption to altitude shown by Sherpas in the Himalayan
mountains and by Amerindians in the Andes. Conceivably a major portion of the adaption
might be determined by 1 or 2 loci. Those occasional Sherpas or Andean Indians who
get mountain sickness have a genetic disease, but the 'disease' is the normal for
those of us who live at lower altitudes. In the Kryghyz Republic, 90% of the territory
is high mountains of the Tien Shan and Pamir ranges, and more than 200,000 people
live at an altitude greater than 3,000 meters above sea level. There, as in other
mountainous regions of the world, high altitude pulmonary hypertension (HAPH) is a
major public health issue because up to 6% of the population develop severe pulmonary
hypertension with right ventricular dysfunction (Mirrakhimov and Winslow, 1996). Morrell
et al. (1995) found that angiotensin I-converting enzyme (ACE; 106180) expression
is increased in small pulmonary arteries of rats with hypoxia-induced pulmonary hypertension.
Morrell et al. (1999) determined the ACE insertion/deletion (I/D) genotypes (106180.0001)
in 37 highland men during investigation for suspected HAPH. People with HAPH were
found to have a 6-fold higher frequency of the I/I genotype compared with those without
(p 0.04). The odds ratio for HAPH among highlanders carrying the I allele was 3.
The results were unexpected because it is the D allele that confers higher ACE enzyme
concentrations (Rigat et al., 1990). Morrell et al. (1999) suggested that the likely
explanation is that the I allele is in linkage disequilibrium with another important;
Inheritance : Autosomal dominant;
Prefixed ID : 178400;
Origin ID : 178400;
UMLS CUI : C0340552;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
